메뉴 건너뛰기




Volumn 12, Issue 1, 2017, Pages 5-20

Current knowledge for pyridoxine-dependent epilepsy: a 2016 update

Author keywords

aldh7a1; aminoadipate semialdehyde synthase; antiquitin; arginine supplementation; lysine restriction; pyridoxal phosphate; pyridoxine; Pyridoxine dependent epilepsy; recurrent seizures; treatment; vitamin B6

Indexed keywords

ANTICONVULSIVE AGENT; ARGININE; FOLINIC ACID; LYSINE; PIPERIDEINE 6 CARBOXYLATE; PYRIDINE DERIVATIVE; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; UNCLASSIFIED DRUG;

EID: 85008467333     PISSN: 17446651     EISSN: 17448417     Source Type: Journal    
DOI: 10.1080/17446651.2017.1273107     Document Type: Review
Times cited : (25)

References (145)
  • 1
    • 85042950964 scopus 로고    scopus 로고
    • Pyridoxine-Dependent Epilepsy
    • Pagon R.A., Adam M.P., Ardinger H.H., (eds), Seattle (WA): University of Washington
    • Gospe SM., Pyridoxine-Dependent Epilepsy. In:Pagon RA, Adam MP, Ardinger HH, et al., Editors. GeneReviews. Seattle (WA):University of Washington. 2014.
    • (2014) GeneReviews
    • Gospe, S.M.1
  • 2
    • 0000743130 scopus 로고
    • Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine
    • Hunt ADJ, Stokes JJ, McCRORY WW, et al. Pyridoxine dependency:report of a case of intractable convulsions in an infant controlled by pyridoxine. Pediatrics. 1954;13:140–145.
    • (1954) Pediatrics , vol.13 , pp. 140-145
    • Hunt, A.D.J.1    Stokes, J.J.2    Mccrory, W.W.3
  • 3
    • 0034911419 scopus 로고    scopus 로고
    • Pyridoxine-dependent and pyridoxine- responsive seizures
    • Baxter P. Pyridoxine-dependent and pyridoxine- responsive seizures. Dev Med Child Neurol. 2001;43:416–420. DOI:10.1111/j.1469-8749.2001.tb00231.x
    • (2001) Dev Med Child Neurol , vol.43 , pp. 416-420
    • Baxter, P.1
  • 4
    • 0025730349 scopus 로고
    • Pyridoxine-dependent seizures, clinical and therapeutic aspects
    • Haenggeli CA, Girardin E, Paunier L. Pyridoxine-dependent seizures, clinical and therapeutic aspects. Eur J Pediatr. 1991;150:452–455.
    • (1991) Eur J Pediatr , vol.150 , pp. 452-455
    • Haenggeli, C.A.1    Girardin, E.2    Paunier, L.3
  • 5
    • 0032732556 scopus 로고    scopus 로고
    • Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK
    • Baxter P. Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch Dis Child. 1999;81:431–433.
    • (1999) Arch Dis Child , vol.81 , pp. 431-433
    • Baxter, P.1
  • 6
    • 84961226918 scopus 로고    scopus 로고
    • Pyridoxine-dependent epilepsy: an expanding clinical spectrum
    • Van Karnebeek CDM, Tiebout SA, Niermeijer J, et al. Pyridoxine-dependent epilepsy:an expanding clinical spectrum. Pediatr Neurol. 2016;59:6–12. DOI:10.1016/j.pediatrneurol.2015.12.013• Recent review of published reports from 2006–2015 describing the most common symptoms and the broad clinical spectrum observed for 266 patient descriptions.
    • (2016) Pediatr Neurol , vol.59 , pp. 6-12
    • Van Karnebeek, C.D.M.1    Tiebout, S.A.2    Niermeijer, J.3
  • 7
    • 77649213119 scopus 로고    scopus 로고
    • Neonatal vitamin-responsive epileptic encephalopathies
    • Gospe SMJ. Neonatal vitamin-responsive epileptic encephalopathies. Chang Gung Med J. 2010;33:1–12.
    • (2010) Chang Gung Med J , vol.33 , pp. 1-12
    • Gospe, S.M.J.1
  • 8
    • 0033510682 scopus 로고    scopus 로고
    • Demographics and diagnosis of pyridoxine-dependent seizures
    • Ebinger M, Schultze C, Konig S. Demographics and diagnosis of pyridoxine-dependent seizures. J Pediatr. 1999;134:795–796.
    • (1999) J Pediatr , vol.134 , pp. 795-796
    • Ebinger, M.1    Schultze, C.2    Konig, S.3
  • 9
    • 28444454497 scopus 로고    scopus 로고
    • Epidemiology of pyridoxine dependent seizures in the Netherlands
    • Been JV, Bok LA, Andriessen P, et al. Epidemiology of pyridoxine dependent seizures in the Netherlands. Arch Dis Child. 2005;90:1293–1296. DOI:10.1136/adc.2005.075069
    • (2005) Arch Dis Child , vol.90 , pp. 1293-1296
    • Been, J.V.1    Bok, L.A.2    Andriessen, P.3
  • 10
    • 33644821320 scopus 로고    scopus 로고
    • Mutations in antiquitin in individuals with pyridoxine-dependent seizures
    • Mills PB, Struys E, Jakobs C, et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med. 2006;12:307–309. DOI:10.1038/nm1366•• Article reporting the discovery of ALDH7A1 mutations as cause of PDE, leading of accumulation of AASA/P6C and inactivation of PLP.
    • (2006) Nat Med , vol.12 , pp. 307-309
    • Mills, P.B.1    Struys, E.2    Jakobs, C.3
  • 11
    • 65449119303 scopus 로고    scopus 로고
    • Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy
    • Gallagher RC, Van Hove JLK, Scharer G, et al. Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol. 2009;65:550–556. DOI:10.1002/ana.21568
    • (2009) Ann Neurol , vol.65 , pp. 550-556
    • Gallagher, R.C.1    Van Hove, J.L.K.2    Scharer, G.3
  • 12
    • 84866734915 scopus 로고    scopus 로고
    • The measurement of urinary Δ1-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in antiquitin deficiency
    • Struys EA, Bok LA, Emal D, et al. The measurement of urinary Δ1-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in antiquitin deficiency. Inherit JMetab Dis. 2012;35:909–916.
    • (2012) Inherit JMetab Dis , vol.35 , pp. 909-916
    • Struys, E.A.1    Bok, L.A.2    Emal, D.3
  • 13
    • 34547662436 scopus 로고    scopus 로고
    • Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels
    • Bok LA, Struys E, Willemsen MAAP, et al. Pyridoxine-dependent seizures in Dutch patients:diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels. Arch Dis Child. 2007;92:687–689. DOI:10.1136/adc.2006.103192
    • (2007) Arch Dis Child , vol.92 , pp. 687-689
    • Bok, L.A.1    Struys, E.2    Willemsen, M.A.A.P.3
  • 14
    • 70349235334 scopus 로고    scopus 로고
    • Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures
    • Sadilkova K, Gospe SM, Hahn SH. Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures. J Neurosci Methods. 2009;184:136–141. DOI:10.1016/j.jneumeth.2009.07.019
    • (2009) J Neurosci Methods , vol.184 , pp. 136-141
    • Sadilkova, K.1    Gospe, S.M.2    Hahn, S.H.3
  • 16
    • 80052599284 scopus 로고    scopus 로고
    • Pyridoxine dependent epilepsy and antiquitin deficiency. clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up
    • Stockler S, Plecko B, Gospe SM, et al. Pyridoxine dependent epilepsy and antiquitin deficiency. clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab. 2011;104:48–60. DOI:10.1016/j.ymgme.2011.05.014• Detailed and comprehensive review of PDE including clinical presentation, diagnosis, mutational spectrum, insights about pathophysiology and treatment options in 2011.
    • (2011) Mol Genet Metab , vol.104 , pp. 48-60
    • Stockler, S.1    Plecko, B.2    Gospe, S.M.3
  • 17
    • 0035022115 scopus 로고    scopus 로고
    • Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopathy
    • Topcu M, Coskun T, Haliloglu G, et al. Molybdenum cofactor deficiency:report of three cases presenting as hypoxic-ischemic encephalopathy. J Child Neurol. 2001;16:264–270.
    • (2001) J Child Neurol , vol.16 , pp. 264-270
    • Topcu, M.1    Coskun, T.2    Haliloglu, G.3
  • 18
    • 23644448216 scopus 로고    scopus 로고
    • Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy
    • Plecko B, Hikel C, Korenke G, et al. Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. Neuropediatrics. 2005;36:200–205. DOI:10.1055/s-2005-865727
    • (2005) Neuropediatrics , vol.36 , pp. 200-205
    • Plecko, B.1    Hikel, C.2    Korenke, G.3
  • 19
    • 84882810470 scopus 로고    scopus 로고
    • Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations
    • Mercimek-Mahmutoglu S, Donner EJ, Siriwardena K. Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations. Mol Genet Metab. 2013;110:197. DOI:10.1016/j.ymgme.2013.04.018
    • (2013) Mol Genet Metab , vol.110 , pp. 197
    • Mercimek-Mahmutoglu, S.1    Donner, E.J.2    Siriwardena, K.3
  • 20
    • 3242668209 scopus 로고    scopus 로고
    • Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders
    • Peduto A, Baumgartner MR, Verhoeven NM, et al. Hyperpipecolic acidaemia:a diagnostic tool for peroxisomal disorders. Mol Genet Metab. 2004;82:224–230. DOI:10.1016/j.ymgme.2004.04.010
    • (2004) Mol Genet Metab , vol.82 , pp. 224-230
    • Peduto, A.1    Baumgartner, M.R.2    Verhoeven, N.M.3
  • 21
    • 84925670759 scopus 로고    scopus 로고
    • Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome
    • Nasr E, Mamak E, Feigenbaum A, et al. Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations:normal neurocognitive outcome. J Child Neurol. 2015;30:648–653. DOI:10.1177/0883073814531331
    • (2015) J Child Neurol , vol.30 , pp. 648-653
    • Nasr, E.1    Mamak, E.2    Feigenbaum, A.3
  • 22
    • 84885432983 scopus 로고    scopus 로고
    • Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS
    • Jung S, Tran N-TB, Gospe SMJ, et al. Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS. Mol Genet Metab. 2013;110:237–240. DOI:10.1016/j.ymgme.2013.07.017• First evidence for detection of AASA/P6C in newborn dried blood spots–towards newborn screening for PDE?
    • (2013) Mol Genet Metab , vol.110 , pp. 237-240
    • Jung, S.1    Tran, N.-T.B.2    Gospe, S.M.J.3
  • 23
    • 84959324997 scopus 로고    scopus 로고
    • Simultaneous detection of lysine metabolites by a single LC-MS/MS method: monitoring lysine degradation in mouse plasma
    • Pena IA, Marques LA, Laranjeira ABA, et al. Simultaneous detection of lysine metabolites by a single LC-MS/MS method:monitoring lysine degradation in mouse plasma. Springerplus. 2016;5:172. DOI:10.1186/s40064-016-1809-1
    • (2016) Springerplus , vol.5 , pp. 172
    • Pena, I.A.1    Marques, L.A.2    Laranjeira, A.B.A.3
  • 24
    • 84960440732 scopus 로고    scopus 로고
    • A novel method for simultaneous quantification of alpha-aminoadipic semialdehyde/piperideine-6-carboxylate and pipecolic acid in plasma and urine
    • Yuzyuk T, Liu A, Thomas A, et al. A novel method for simultaneous quantification of alpha-aminoadipic semialdehyde/piperideine-6-carboxylate and pipecolic acid in plasma and urine. J Chromatogr B Analyt Technol Biomed Life Sci. 2016;1017–1018:145–152. DOI:10.1016/j.jchromb.2016.02.043
    • (2016) J Chromatogr B Analyt Technol Biomed Life Sci , vol.1017-1018 , pp. 145-152
    • Yuzyuk, T.1    Liu, A.2    Thomas, A.3
  • 25
    • 84959055361 scopus 로고    scopus 로고
    • Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by alu-alu recombination
    • Mefford HC, Zemel M, Geraghty E, et al. Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by alu-alu recombination. Neurology. 2015;85:756–762. DOI:10.1212/WNL.0000000000001883
    • (2015) Neurology , vol.85 , pp. 756-762
    • Mefford, H.C.1    Zemel, M.2    Geraghty, E.3
  • 26
    • 34447257158 scopus 로고    scopus 로고
    • Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis
    • Kanno J, Kure S, Narisawa A, et al. Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis. Mol Genet Metab. 2007;91:384–389. DOI:10.1016/j.ymgme.2007.02.010
    • (2007) Mol Genet Metab , vol.91 , pp. 384-389
    • Kanno, J.1    Kure, S.2    Narisawa, A.3
  • 27
    • 84873414212 scopus 로고    scopus 로고
    • Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option
    • Pérez B, Gutiérrez-Solana LG, Verdú A, et al. Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. Epilepsia. 2013;54:239–248. DOI:10.1111/epi.12083
    • (2013) Epilepsia , vol.54 , pp. 239-248
    • Pérez, B.1    Gutiérrez-Solana, L.G.2    Verdú, A.3
  • 28
    • 65549169180 scopus 로고    scopus 로고
    • Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients
    • Bennett CL, Chen Y, Hahn S, et al. Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients. Epilepsia. 2009;50:1167–1175. DOI:10.1111/j.1528-1167.2008.01816.x
    • (2009) Epilepsia , vol.50 , pp. 1167-1175
    • Bennett, C.L.1    Chen, Y.2    Hahn, S.3
  • 29
    • 33845964751 scopus 로고    scopus 로고
    • Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene
    • Plecko B, Paul K, Paschke E, et al. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat. 2007;28:19–26. DOI:10.1002/humu.20433
    • (2007) Hum Mutat , vol.28 , pp. 19-26
    • Plecko, B.1    Paul, K.2    Paschke, E.3
  • 30
    • 36148958973 scopus 로고    scopus 로고
    • An intriguing “silent” mutation and a founder effect in antiquitin (ALDH7A1)
    • Salomons GS, Bok LA, Struys EA, et al. An intriguing “silent” mutation and a founder effect in antiquitin (ALDH7A1). Ann Neurol. 2007;62:414–418. DOI:10.1002/ana.21206
    • (2007) Ann Neurol , vol.62 , pp. 414-418
    • Salomons, G.S.1    Bok, L.A.2    Struys, E.A.3
  • 31
    • 77957552434 scopus 로고    scopus 로고
    • Scharer G, Brocker C, Vasiliou V. The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. J Inherit Metab Dis. 2010;33:571–581. DOI:10.1007/s10545-010-9187-2•• Description of the several genotypes and mutation types published for PDE until 2010. The authors studied the most common missense mutations and their possible implication in antiquitin function (based on structural and biochemical analysis). Suggestion of existence of three clinical phenotypes and three mutation classes for PDE patients but without clear association.
    • (2010) The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1 , pp. 571-581
    • Scharer, G.1    Brocker, C.2    Vasiliou, V.3
  • 32
    • 77953307970 scopus 로고    scopus 로고
    • Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress
    • Brocker C, Lassen N, Estey T, et al. Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress. J Biol Chem. 2010;285:18452–18463. DOI:10.1074/jbc.M109.077925
    • (2010) J Biol Chem , vol.285 , pp. 18452-18463
    • Brocker, C.1    Lassen, N.2    Estey, T.3
  • 33
    • 79957558201 scopus 로고    scopus 로고
    • Human antiquitin: structural and functional studies
    • Chan C-L, Wong JWY, Wong C-P, et al. Human antiquitin:structural and functional studies. Chem Biol Interact. 2011;191:165–170. DOI:10.1016/j.cbi.2010.12.019
    • (2011) Chem Biol Interact , vol.191 , pp. 165-170
    • Chan, C.-L.1    Wong, J.W.Y.2    Wong, C.-P.3
  • 34
    • 84941089320 scopus 로고    scopus 로고
    • Structural basis of substrate recognition by aldehyde dehydrogenase 7A1
    • Luo M, Tanner JJ. Structural basis of substrate recognition by aldehyde dehydrogenase 7A1. Biochemistry. 2015;54:5513–5522. DOI:10.1021/acs.biochem.5b00754
    • (2015) Biochemistry , vol.54 , pp. 5513-5522
    • Luo, M.1    Tanner, J.J.2
  • 35
    • 84864362351 scopus 로고    scopus 로고
    • Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy
    • Coulter-Mackie MB, Li A, Lian Q, et al. Overexpression of human antiquitin in E. coli:enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. Mol Genet Metab. 2012;106:478–481. DOI:10.1016/j.ymgme.2012.06.008
    • (2012) Mol Genet Metab , vol.106 , pp. 478-481
    • Coulter-Mackie, M.B.1    Li, A.2    Lian, Q.3
  • 36
    • 33947574490 scopus 로고    scopus 로고
    • Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime
    • Rankin PM, Harrison S, Chong WK, et al. Pyridoxine-dependent seizures:a family phenotype that leads to severe cognitive deficits, regardless of treatment regime. Dev Med Child Neurol. 2007;49:300–305. DOI:10.1111/j.1469-8749.2007.00300.x
    • (2007) Dev Med Child Neurol , vol.49 , pp. 300-305
    • Rankin, P.M.1    Harrison, S.2    Chong, W.K.3
  • 37
    • 84875378551 scopus 로고    scopus 로고
    • Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene
    • Tlili A, Hamida Hentati N, Chaabane R, et al. Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene. Gene. 2013;518:242–245. DOI:10.1016/j.gene.2013.01.041
    • (2013) Gene , vol.518 , pp. 242-245
    • Tlili, A.1    Hamida Hentati, N.2    Chaabane, R.3
  • 38
    • 84897575512 scopus 로고    scopus 로고
    • Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy
    • Coulter-Mackie MB, Tiebout S, Van Karnebeek C, et al. Overexpression of recombinant human antiquitin in E. coli:partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. Mol Genet Metab. 2014;111:462–466. DOI:10.1016/j.ymgme.2014.02.010
    • (2014) Mol Genet Metab , vol.111 , pp. 462-466
    • Coulter-Mackie, M.B.1    Tiebout, S.2    Van Karnebeek, C.3
  • 39
    • 77949268351 scopus 로고    scopus 로고
    • Antenatal treatment in two Dutch families with pyridoxine-dependent seizures
    • Bok LA, Been JV, Struys EA, et al. Antenatal treatment in two Dutch families with pyridoxine-dependent seizures. Eur J Pediatr. 2010;169:297–303. DOI:10.1007/s00431-009-1020-2
    • (2010) Eur J Pediatr , vol.169 , pp. 297-303
    • Bok, L.A.1    Been, J.V.2    Struys, E.A.3
  • 40
    • 84996993097 scopus 로고    scopus 로고
    • Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy
    • Al Teneiji A, Bruun TUJ, Cordeiro D, et al. Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy. Metab Brain Dis. 2016;1–9. DOI:10.1007/s11011-016-9933-8
    • (2016) Metab Brain Dis , pp. 1-9
    • Al Teneiji, A.1    Bruun, T.U.J.2    Cordeiro, D.3
  • 41
    • 0035805636 scopus 로고    scopus 로고
    • Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II
    • Farrant RD, Walker V, Mills GA, et al. Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II. J Biol Chem. 2001;276:15107–15116. DOI:10.1074/jbc.M010860200
    • (2001) J Biol Chem , vol.276 , pp. 15107-15116
    • Farrant, R.D.1    Walker, V.2    Mills, G.A.3
  • 42
    • 0038109707 scopus 로고    scopus 로고
    • Intracerebroventricular administration of GABA-A and GABA-B receptor antagonists attenuate feeding and sleeping-like behavior induced by L-pipecolic acid in neonatal chicks
    • Takagi T, Bungo T, Tachibana T, et al. Intracerebroventricular administration of GABA-A and GABA-B receptor antagonists attenuate feeding and sleeping-like behavior induced by L-pipecolic acid in neonatal chicks. J Neurosci Res. 2003;73:270–275. DOI:10.1002/jnr.10656
    • (2003) J Neurosci Res , vol.73 , pp. 270-275
    • Takagi, T.1    Bungo, T.2    Tachibana, T.3
  • 43
    • 0038302345 scopus 로고    scopus 로고
    • Central pipecolic acid increases food intake under ad libitum feeding conditions in the neonatal chick
    • Takagi T, Tachibana T, Saito E-S, et al. Central pipecolic acid increases food intake under ad libitum feeding conditions in the neonatal chick. Neurosci. Lett. 2003;347:93–96.
    • (2003) Neurosci. Lett , vol.347 , pp. 93-96
    • Takagi, T.1    Tachibana, T.2    Saito, E.-S.3
  • 44
    • 0035860438 scopus 로고    scopus 로고
    • Intracerebroventricular injection of pipecolic acid inhibits food intake and induces sleeping-like behaviors in the neonatal chick
    • Takagi T, Ando R, Ohgushi A, et al. Intracerebroventricular injection of pipecolic acid inhibits food intake and induces sleeping-like behaviors in the neonatal chick. Neurosci Lett. 2001;310:97–100. DOI:10.1016/S0304-3940(01)02059-6
    • (2001) Neurosci Lett , vol.310 , pp. 97-100
    • Takagi, T.1    Ando, R.2    Ohgushi, A.3
  • 45
    • 0024335768 scopus 로고
    • Influence of pipecolic acid on the release and uptake of 3H.GABA from brain slices of mouse cerebral cortex
    • Gutiérrez MC, Delgado-Coello BA. Influence of pipecolic acid on the release and uptake of 3H.GABA from brain slices of mouse cerebral cortex. Neurochem Res. 1989;14:405–408. DOI:10.1007/BF00964852
    • (1989) Neurochem Res , vol.14 , pp. 405-408
    • Gutiérrez, M.C.1    Delgado-Coello, B.A.2
  • 46
    • 0019991348 scopus 로고
    • Potentiation of phenobarbital-induced anticonvulsant activity by pipecolic acid
    • Takahama K, Miyata T, Okano Y, et al. Potentiation of phenobarbital-induced anticonvulsant activity by pipecolic acid. Eur J Pharmacol. 1982;81:327–331.
    • (1982) Eur J Pharmacol , vol.81 , pp. 327-331
    • Takahama, K.1    Miyata, T.2    Okano, Y.3
  • 47
    • 33745083423 scopus 로고    scopus 로고
    • B6-responsive disorders: a model of vitamin dependency
    • Clayton PT. B6-responsive disorders:a model of vitamin dependency. J Inherit Metab Dis. 2006;29:317–326. DOI:10.1007/s10545-005-0243-2
    • (2006) J Inherit Metab Dis , vol.29 , pp. 317-326
    • Clayton, P.T.1
  • 48
    • 0142186241 scopus 로고    scopus 로고
    • A genomic overview of pyridoxal-phosphate-dependent enzymes
    • Percudani R, Peracchi A. A genomic overview of pyridoxal-phosphate-dependent enzymes. EMBO Rep. 2003;4:850–854. DOI:10.1038/sj.embor.embor914
    • (2003) EMBO Rep , vol.4 , pp. 850-854
    • Percudani, R.1    Peracchi, A.2
  • 49
    • 0028349033 scopus 로고
    • Reduced GABA synthesis in pyridoxine-dependent seizures
    • Gospe SMJ, Olin KL, Keen CL. Reduced GABA synthesis in pyridoxine-dependent seizures. Lancet (London, England). 1994;343:1133–1134.
    • (1994) Lancet (London, England) , vol.343 , pp. 1133-1134
    • Gospe, S.M.J.1    Olin, K.L.2    Keen, C.L.3
  • 50
    • 0026470695 scopus 로고
    • Disturbance of GABA metabolism in pyridoxine-dependent seizures
    • Kurlemann G, Ziegler R, Gruneberg M, et al. Disturbance of GABA metabolism in pyridoxine-dependent seizures. Neuropediatrics. 1992;23:257–259. DOI:10.1055/s-2008-1071353
    • (1992) Neuropediatrics , vol.23 , pp. 257-259
    • Kurlemann, G.1    Ziegler, R.2    Gruneberg, M.3
  • 51
    • 0017903491 scopus 로고
    • Vitamin B6-dependent seizures: pathology and chemical findings in brain
    • Lott IT, Coulombe T, Di Paolo RV, et al. Vitamin B6-dependent seizures:pathology and chemical findings in brain. Neurology. 1978;28:47–54.
    • (1978) Neurology , vol.28 , pp. 47-54
    • Lott, I.T.1    Coulombe, T.2    Di Paolo, R.V.3
  • 52
    • 0035137321 scopus 로고    scopus 로고
    • CSF glutamate/GABA concentrations in pyridoxine-dependent seizures: etiology of pyridoxine-dependent seizures and the mechanisms of pyridoxine action in seizure control
    • Goto T, Matsuo N, Takahashi T. CSF glutamate/GABA concentrations in pyridoxine-dependent seizures:etiology of pyridoxine-dependent seizures and the mechanisms of pyridoxine action in seizure control. Brain Dev. 2001;23:24–29.
    • (2001) Brain Dev , vol.23 , pp. 24-29
    • Goto, T.1    Matsuo, N.2    Takahashi, T.3
  • 53
    • 69249139018 scopus 로고    scopus 로고
    • Vitamin B6 dependent seizures
    • Plecko B, Stockler S. Vitamin B6 dependent seizures. Can J Neurol Sci. 2009;36(Suppl 2):S73–7.
    • (2009) Can J Neurol Sci , vol.36 , pp. S73-S77
    • Plecko, B.1    Stockler, S.2
  • 54
    • 20244367772 scopus 로고    scopus 로고
    • Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5ʹ-phosphate oxidase
    • Mills PB, Surtees RAH, Champion MP, et al. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5ʹ-phosphate oxidase. Hum Mol Genet. 2005;14:1077–1086. DOI:10.1093/hmg/ddi120
    • (2005) Hum Mol Genet , vol.14 , pp. 1077-1086
    • Mills, P.B.1    Surtees, R.A.H.2    Champion, M.P.3
  • 55
    • 85054117947 scopus 로고    scopus 로고
    • Vitamin B6 metabolism and inborn errors, in: online Metab
    • Mills P, Footitt E, Clayton PT. Vitamin B6 metabolism and inborn errors, in:online Metab. Mol Bases Inherit Dis. 2011. DOI:10.1036/ommbid.296
    • (2011) Mol Bases Inherit Dis
    • Mills, P.1    Footitt, E.2    Clayton, P.T.3
  • 56
    • 0002730462 scopus 로고
    • URINARY VITAMIN B6 AND 4-PYRIDOXIC ACID IN HEALTH AND IN VITAMIN B6 DEPENDENCY
    • Scriver CR, Cullen AM. URINARY VITAMIN B6 AND 4-PYRIDOXIC ACID IN HEALTH AND IN VITAMIN B6 DEPENDENCY. Pediatrics. 1965;36:14–20.
    • (1965) Pediatrics , vol.36 , pp. 14-20
    • Scriver, C.R.1    Cullen, A.M.2
  • 57
    • 84872611060 scopus 로고    scopus 로고
    • Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method
    • Footitt EJ, Clayton PT, Mills K, et al. Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method. J Inherit Metab Dis. 2013;36:139–145. DOI:10.1007/s10545-012-9493-y
    • (2013) J Inherit Metab Dis , vol.36 , pp. 139-145
    • Footitt, E.J.1    Clayton, P.T.2    Mills, K.3
  • 58
    • 0034795873 scopus 로고    scopus 로고
    • Efflux of a suppressive neurotransmitter, GABA, across the blood-brain barrier
    • Kakee A, Takanaga H, Terasaki T, et al. Efflux of a suppressive neurotransmitter, GABA, across the blood-brain barrier. J Neurochem. 2001;79:110–118.
    • (2001) J Neurochem , vol.79 , pp. 110-118
    • Kakee, A.1    Takanaga, H.2    Terasaki, T.3
  • 59
    • 84974814397 scopus 로고    scopus 로고
    • Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy
    • Yuzyuk T, Thomas A, Viau K, et al. Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy. Mol Genet Metab. 2016;118:167–172. DOI:10.1016/j.ymgme.2016.04.015
    • (2016) Mol Genet Metab , vol.118 , pp. 167-172
    • Yuzyuk, T.1    Thomas, A.2    Viau, K.3
  • 60
    • 71549158803 scopus 로고    scopus 로고
    • Metabolism of lysine in alpha-aminoadipic semialdehyde dehydrogenase-deficient fibroblasts: evidence for an alternative pathway of pipecolic acid formation
    • Struys EA, Jakobs C. Metabolism of lysine in alpha-aminoadipic semialdehyde dehydrogenase-deficient fibroblasts:evidence for an alternative pathway of pipecolic acid formation. FEBS Lett. 2010;584:181–186. DOI:10.1016/j.febslet.2009.11.055
    • (2010) FEBS Lett , vol.584 , pp. 181-186
    • Struys, E.A.1    Jakobs, C.2
  • 61
    • 84904173765 scopus 로고    scopus 로고
    • Human pyrroline-5-carboxylate reductase (PYCR1) acts on piperideine-6-carboxylate generating L-pipecolic acid
    • Struys EA, Jansen EEW, Salomons GS. Human pyrroline-5-carboxylate reductase (PYCR1) acts on piperideine-6-carboxylate generating L-pipecolic acid. J Inherit Metab Dis. 2014;37:327–332. DOI:10.1007/s10545-013-9673-4
    • (2014) J Inherit Metab Dis , vol.37 , pp. 327-332
    • Struys, E.A.1    Jansen, E.E.W.2    Salomons, G.S.3
  • 62
    • 79955599352 scopus 로고    scopus 로고
    • Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity
    • Brocker C, Cantore M, Failli P, et al. Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity. Chem Biol Interact. 2011;191:269–277. DOI:10.1016/j.cbi.2011.02.016
    • (2011) Chem Biol Interact , vol.191 , pp. 269-277
    • Brocker, C.1    Cantore, M.2    Failli, P.3
  • 63
    • 67349248477 scopus 로고    scopus 로고
    • Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry
    • Basura GJ, Hagland SP, Wiltse AM, et al., Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures:review of 63 North American cases submitted to a patient registry., Eur J Pediatr. 168 (2009) 697–704. doi:10.1007/s00431-008-0823-x.•• Outline of the 63 cases submitted to the first PDE patient registry:natural history, diagnosis, treatment outcomes and management.
    • (2009) Eur J Pediatr , vol.168 , pp. 697-704
    • Basura, G.J.1    Hagland, S.P.2    Wiltse, A.M.3
  • 64
    • 0029850279 scopus 로고    scopus 로고
    • Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient
    • Baxter P, Griffiths P, Kelly T, et al. Pyridoxine-dependent seizures:demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. Dev Med Child Neurol. 1996;38:998–1006.
    • (1996) Dev Med Child Neurol , vol.38 , pp. 998-1006
    • Baxter, P.1    Griffiths, P.2    Kelly, T.3
  • 65
    • 0014076602 scopus 로고
    • Familial intrauterine convulsions in pyridoxine dependency
    • Bejsovec M, Kulenda Z, Ponca E. Familial intrauterine convulsions in pyridoxine dependency. Arch Dis Child. 1967;42:201–207.
    • (1967) Arch Dis Child , vol.42 , pp. 201-207
    • Bejsovec, M.1    Kulenda, Z.2    Ponca, E.3
  • 66
    • 0033547655 scopus 로고    scopus 로고
    • Neonatal seizures after pyridoxine use
    • Baxter P, Aicardi J. Neonatal seizures after pyridoxine use. Lancet (London, England). 1999;354:2082–2083. DOI:10.1016/S0140-6736(05)76825-2
    • (1999) Lancet (London, England) , vol.354 , pp. 2082-2083
    • Baxter, P.1    Aicardi, J.2
  • 67
    • 0026905512 scopus 로고
    • Postneonatal vitamin B6-dependent epilepsy
    • Coker SB. Postneonatal vitamin B6-dependent epilepsy. Pediatrics. 1992;90:221–223.
    • (1992) Pediatrics , vol.90 , pp. 221-223
    • Coker, S.B.1
  • 68
    • 0029814382 scopus 로고    scopus 로고
    • Pyridoxine-dependent epilepsy: the need for repeated pyridoxine trials and the risk of severe electrocerebral suppression with intravenous pyridoxine infusion
    • Bass NE, Wyllie E, Cohen B, et al. Pyridoxine-dependent epilepsy:the need for repeated pyridoxine trials and the risk of severe electrocerebral suppression with intravenous pyridoxine infusion. J Child Neurol. 1996;11:422–424.
    • (1996) J Child Neurol , vol.11 , pp. 422-424
    • Bass, N.E.1    Wyllie, E.2    Cohen, B.3
  • 69
    • 79952554626 scopus 로고    scopus 로고
    • Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy
    • Segal EB, Grinspan ZM, Mandel AM, et al. Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy. Pediatr Neurol. 2011;44:289–291. DOI:10.1016/j.pediatrneurol.2010.11.012
    • (2011) Pediatr Neurol , vol.44 , pp. 289-291
    • Segal, E.B.1    Grinspan, Z.M.2    Mandel, A.M.3
  • 70
    • 63249118726 scopus 로고    scopus 로고
    • Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness
    • Kluger G, Blank R, Paul K, et al. Pyridoxine-dependent epilepsy:normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness. Neuropediatrics. 2008;39:276–279. DOI:10.1055/s-0029-1202833
    • (2008) Neuropediatrics , vol.39 , pp. 276-279
    • Kluger, G.1    Blank, R.2    Paul, K.3
  • 71
    • 0033016474 scopus 로고    scopus 로고
    • Long-term follow-up of an individual with vitamin B6-dependent seizures
    • Ohtsuka Y, Hattori J, Ishida T, et al. Long-term follow-up of an individual with vitamin B6-dependent seizures. Dev Med Child Neurol. 1999;41:203–206.
    • (1999) Dev Med Child Neurol , vol.41 , pp. 203-206
    • Ohtsuka, Y.1    Hattori, J.2    Ishida, T.3
  • 72
    • 84952815154 scopus 로고    scopus 로고
    • corpus callosum diffusion and connectivity features in high functioning subjects with pyridoxine-dependent epilepsy
    • Poliachik SL, Friedman SD, Poliakov AV, et al. corpus callosum diffusion and connectivity features in high functioning subjects with pyridoxine-dependent epilepsy. Pediatr Neurol. 2016;54:43–48. DOI:10.1016/j.pediatrneurol.2015.09.012
    • (2016) Pediatr Neurol , vol.54 , pp. 43-48
    • Poliachik, S.L.1    Friedman, S.D.2    Poliakov, A.V.3
  • 73
    • 84914154913 scopus 로고    scopus 로고
    • Callosal alterations in pyridoxine-dependent epilepsy
    • Friedman SD, Ishak GE, Poliachik SL, et al. Callosal alterations in pyridoxine-dependent epilepsy. Dev Med Child Neurol. 2014;56:1106–1110. DOI:10.1111/dmcn.12511• First study report of postmortem brain from a proven PDE patient suggesting neuronal migration abnormalities and other structural brain defects.
    • (2014) Dev Med Child Neurol , vol.56 , pp. 1106-1110
    • Friedman, S.D.1    Ishak, G.E.2    Poliachik, S.L.3
  • 74
    • 84979220376 scopus 로고    scopus 로고
    • Pyridoxine-dependent epilepsy: report on three families with neuropathology
    • Marguet F, Barakizou H, Tebani A, et al. Pyridoxine-dependent epilepsy:report on three families with neuropathology. Metab Brain Dis. 2016. DOI:10.1007/s11011-016-9869-z
    • (2016) Metab Brain Dis
    • Marguet, F.1    Barakizou, H.2    Tebani, A.3
  • 75
    • 84860550113 scopus 로고    scopus 로고
    • Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy
    • Mercimek-Mahmutoglu S, Horvath GA, Coulter-Mackie M, et al. Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy. Pediatrics. 2012;129:e1368–72. DOI:10.1542/peds.2011-0123
    • (2012) Pediatrics , vol.129 , pp. e1368-e1372
    • Mercimek-Mahmutoglu, S.1    Horvath, G.A.2    Coulter-Mackie, M.3
  • 76
    • 84894053452 scopus 로고    scopus 로고
    • Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy
    • Jansen LA, Hevner RF, Roden WH, et al. Glial localization of antiquitin:implications for pyridoxine-dependent epilepsy. Ann Neurol. 2014;75:22–32. DOI:10.1002/ana.24027
    • (2014) Ann Neurol , vol.75 , pp. 22-32
    • Jansen, L.A.1    Hevner, R.F.2    Roden, W.H.3
  • 77
    • 78650010093 scopus 로고    scopus 로고
    • The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy
    • Bok LA, Maurits NM, Willemsen MA, et al. The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy. Epilepsia. 2010;51:2406–2411. DOI:10.1111/j.1528-1167.2010.02747.x
    • (2010) Epilepsia , vol.51 , pp. 2406-2411
    • Bok, L.A.1    Maurits, N.M.2    Willemsen, M.A.3
  • 78
    • 76749155093 scopus 로고    scopus 로고
    • Electroencephalographic changes in pyridoxine-dependant epilepsy: new observations
    • Naasan G, Yabroudi M, Rahi A, et al. Electroencephalographic changes in pyridoxine-dependant epilepsy:new observations. Epileptic Disord. 2009;11:293–300. DOI:10.1684/epd.2009.0280
    • (2009) Epileptic Disord , vol.11 , pp. 293-300
    • Naasan, G.1    Yabroudi, M.2    Rahi, A.3
  • 79
    • 0026062005 scopus 로고
    • Pyridoxine-dependent epilepsy: EEG investigations and long-term follow-up., Electroencephalogr
    • Mikati MA, Trevathan E, Krishnamoorthy KS, et al. Pyridoxine-dependent epilepsy:EEG investigations and long-term follow-up., Electroencephalogr. Clin Neurophysiol. 1991;78:215–221.
    • (1991) Clin Neurophysiol , vol.78 , pp. 215-221
    • Mikati, M.A.1    Trevathan, E.2    Krishnamoorthy, K.S.3
  • 80
    • 77954645270 scopus 로고    scopus 로고
    • Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency
    • Schmitt B, Baumgartner M, Mills PB, et al. Seizures and paroxysmal events:symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. Dev Med Child Neurol. 2010;52:e133–42. DOI:10.1111/j.1469-8749.2010.03660.x
    • (2010) Dev Med Child Neurol , vol.52 , pp. e133-e142
    • Schmitt, B.1    Baumgartner, M.2    Mills, P.B.3
  • 81
    • 0242438384 scopus 로고    scopus 로고
    • Pyridoxine dependent epilepsy: a suggestive electroclinical pattern
    • Nabbout R, Soufflet C, Plouin P, et al. Pyridoxine dependent epilepsy:a suggestive electroclinical pattern. Arch Dis Child Fetal Neonatal Ed. 1999;81:F125–9.
    • (1999) Arch Dis Child Fetal Neonatal Ed , vol.81 , pp. F125-F129
    • Nabbout, R.1    Soufflet, C.2    Plouin, P.3
  • 82
    • 34447273817 scopus 로고    scopus 로고
    • Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency
    • Struys EA, Jakobs C. Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency. Mol Genet Metab. 2007;91:405. DOI:10.1016/j.ymgme.2007.04.016
    • (2007) Mol Genet Metab , vol.91 , pp. 405
    • Struys, E.A.1    Jakobs, C.2
  • 83
    • 84870493681 scopus 로고    scopus 로고
    • Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency
    • Struys EA, Nota B, Bakkali A, et al. Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency. Pediatrics. 2012;130:e1716–9. DOI:10.1542/peds.2012-1094
    • (2012) Pediatrics , vol.130 , pp. e1716-e1719
    • Struys, E.A.1    Nota, B.2    Bakkali, A.3
  • 84
    • 84867854367 scopus 로고    scopus 로고
    • Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency
    • Mills PB, Footitt EJ, Ceyhan S, et al. Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. J Inheritmetab Dis. 2012;35:1031–1036. DOI:10.1007/s10545-012-9466-1
    • (2012) J Inheritmetab Dis , vol.35 , pp. 1031-1036
    • Mills, P.B.1    Footitt, E.J.2    Ceyhan, S.3
  • 85
    • 84901932015 scopus 로고    scopus 로고
    • Pyridoxine responsiveness in novel mutations of the PNPO gene
    • Plecko B, Paul K, Mills P, et al. Pyridoxine responsiveness in novel mutations of the PNPO gene. Neurology. 2014;82:1425–1433. DOI:10.1212/WNL.0000000000000344
    • (2014) Neurology , vol.82 , pp. 1425-1433
    • Plecko, B.1    Paul, K.2    Mills, P.3
  • 86
    • 85054429229 scopus 로고    scopus 로고
    • Partial pyridoxine responsiveness in pnpo deficiency
    • Pearl PL, Hyland K, Chiles J, et al. Partial pyridoxine responsiveness in pnpo deficiency. JIMD Rep. 2013;9:139–142. DOI:10.1007/8904_2012_194• Study of 14 PDE cases in Netherlands describing long-term outcomes, suggesting poor outcome and correlations between patient characteristics and follow-up.
    • (2013) JIMD Rep , vol.9 , pp. 139-142
    • Pearl, P.L.1    Hyland, K.2    Chiles, J.3
  • 87
    • 84899807917 scopus 로고    scopus 로고
    • Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome
    • Mills PB, Camuzeaux SSM, Footitt EJ, et al. Epilepsy due to PNPO mutations:genotype, environment and treatment affect presentation and outcome. Brain. 2014;137:1350–1360. DOI:10.1093/brain/awu051
    • (2014) Brain , vol.137 , pp. 1350-1360
    • Mills, P.B.1    Camuzeaux, S.S.M.2    Footitt, E.J.3
  • 88
    • 85004081533 scopus 로고    scopus 로고
    • Mutations in PROSC disrupt cellular pyridoxal phosphate homeostasis and cause vitamin-b6-dependent epilepsy
    • Darin N, Reid E, Prunetti L, et al. Mutations in PROSC disrupt cellular pyridoxal phosphate homeostasis and cause vitamin-b6-dependent epilepsy. Am J Hum Genet. 2016;99:1325–1337. DOI:10.1016/j.ajhg.2016.10.011
    • (2016) Am J Hum Genet , vol.99 , pp. 1325-1337
    • Darin, N.1    Reid, E.2    Prunetti, L.3
  • 89
    • 84865171162 scopus 로고    scopus 로고
    • Long-term outcome in pyridoxine-dependent epilepsy
    • Bok LA, Halbertsma FJ, Houterman S, et al. Long-term outcome in pyridoxine-dependent epilepsy. Dev Med Child Neurol. 2012;54:849–854. DOI:10.1111/j.1469-8749.2012.04347.x
    • (2012) Dev Med Child Neurol , vol.54 , pp. 849-854
    • Bok, L.A.1    Halbertsma, F.J.2    Houterman, S.3
  • 90
    • 0028897913 scopus 로고
    • Pyridoxine dependent epilepsy with iatrogenic sensory neuronopathy
    • McLachlan RS, Brown WF. Pyridoxine dependent epilepsy with iatrogenic sensory neuronopathy. Can J Neurol Sci. 1995;22:50–51.
    • (1995) Can J Neurol Sci , vol.22 , pp. 50-51
    • McLachlan, R.S.1    Brown, W.F.2
  • 91
    • 84924918291 scopus 로고    scopus 로고
    • Long-term follow-up of a successfully treated case of congenital pyridoxine-dependent epilepsy
    • Proudfoot M, Jardine P, Straukiene A, et al. Long-term follow-up of a successfully treated case of congenital pyridoxine-dependent epilepsy. JIMD Rep. 2013;10:103–106. DOI:10.1007/8904_2012_210
    • (2013) JIMD Rep , vol.10 , pp. 103-106
    • Proudfoot, M.1    Jardine, P.2    Straukiene, A.3
  • 92
    • 0142217986 scopus 로고    scopus 로고
    • Pyridoxine-dependent seizures and cognition in adulthood
    • Baynes K, Farias ST, Gospe SMJ. Pyridoxine-dependent seizures and cognition in adulthood. Dev Med Child Neurol. 2003;45:782–785.
    • (2003) Dev Med Child Neurol , vol.45 , pp. 782-785
    • Baynes, K.1    Farias, S.T.2    Gospe, S.M.J.3
  • 93
    • 1642460797 scopus 로고    scopus 로고
    • The consequences of uncontrolled epilepsy
    • Sperling MR. The consequences of uncontrolled epilepsy. CNS Spectr. 2004;9:98-101-109.
    • (2004) CNS Spectr , vol.9
    • Sperling, M.R.1
  • 94
    • 84903470405 scopus 로고    scopus 로고
    • The consequences of refractory epilepsy and its treatment
    • Laxer KD, Trinka E, Hirsch LJ, et al. The consequences of refractory epilepsy and its treatment. Epilepsy Behav. 2014;37:59–70. DOI:10.1016/j.yebeh.2014.05.031
    • (2014) Epilepsy Behav , vol.37 , pp. 59-70
    • Laxer, K.D.1    Trinka, E.2    Hirsch, L.J.3
  • 95
    • 84872842396 scopus 로고    scopus 로고
    • Cell death and survival mechanisms after single and repeated brief seizures
    • Noebels J.L., Avoli M., Rogawski M.A., (eds), Bethesda (MD): National Center for Biotechnology Information
    • Henshall DC, Meldrum BS. Cell death and survival mechanisms after single and repeated brief seizures. In:Noebels JL, Avoli M, Rogawski MA, et al., Editors. Jasper's Basic Mechanisms of the Epilepsies, 4th edition. Bethesda (MD):National Center for Biotechnology Information. 2012.
    • (2012) Jasper's Basic Mechanisms of the Epilepsies, 4th edition
    • Henshall, D.C.1    Meldrum, B.S.2
  • 96
    • 84922295326 scopus 로고    scopus 로고
    • Current treatment and management of pyridoxine-dependent epilepsy
    • Van Karnebeek CDM, Jaggumantri S. Current treatment and management of pyridoxine-dependent epilepsy. Curr Treat Options Neurol. 2015;17:335. DOI:10.1007/s11940-014-0335-0
    • (2015) Curr Treat Options Neurol , vol.17 , pp. 335
    • Van Karnebeek, C.D.M.1    Jaggumantri, S.2
  • 97
    • 81355149824 scopus 로고    scopus 로고
    • Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity?
    • Hartmann H, Fingerhut M, Jakobs C, et al. Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency:pyridoxine toxicity?. Dev Med Child Neurol. 2011;53:1150–1153. DOI:10.1111/j.1469-8749.2011.04033.x
    • (2011) Dev Med Child Neurol , vol.53 , pp. 1150-1153
    • Hartmann, H.1    Fingerhut, M.2    Jakobs, C.3
  • 98
    • 18244389446 scopus 로고    scopus 로고
    • Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy
    • Wang H-S, Kuo M-F, Chou M-L, et al. Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy. Arch Dis Child. 2005;90:512–515. DOI:10.1136/adc.2003.045963
    • (2005) Arch Dis Child , vol.90 , pp. 512-515
    • Wang, H.-S.1    Kuo, M.-F.2    Chou, M.-L.3
  • 99
    • 33846454698 scopus 로고    scopus 로고
    • Pyridoxal 5ʹ-phosphate may be curative in early-onset epileptic encephalopathy
    • Hoffmann GF, Schmitt B, Windfuhr M, et al. Pyridoxal 5ʹ-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis. 2007;30:96–99. DOI:10.1007/s10545-006-0508-4
    • (2007) J Inherit Metab Dis , vol.30 , pp. 96-99
    • Hoffmann, G.F.1    Schmitt, B.2    Windfuhr, M.3
  • 100
    • 85019404390 scopus 로고    scopus 로고
    • cirrhosis associated with pyridoxal 5′-phosphate treatment of pyridoxamine 5′-phosphate oxidase deficiency
    • Sudarsanam A, Singh H, Wilcken B, et al. cirrhosis associated with pyridoxal 5′-phosphate treatment of pyridoxamine 5′-phosphate oxidase deficiency. JIMD Rep. 2014;17:67–70. DOI:10.1007/8904_2014_338
    • (2014) JIMD Rep , vol.17 , pp. 67-70
    • Sudarsanam, A.1    Singh, H.2    Wilcken, B.3
  • 101
    • 34249979299 scopus 로고    scopus 로고
    • Folic acid for the prevention of colorectal adenomas: a randomized clinical trial
    • Cole BF, Baron JA, Sandler RS, et al. Folic acid for the prevention of colorectal adenomas:a randomized clinical trial. Jama. 2007;297:2351–2359. DOI:10.1001/jama.297.21.2351
    • (2007) Jama , vol.297 , pp. 2351-2359
    • Cole, B.F.1    Baron, J.A.2    Sandler, R.S.3
  • 102
    • 84889778589 scopus 로고    scopus 로고
    • Inborn errors of metabolism and expanded newborn screening: review and update
    • Mak CM, Lee H-CH, Chan AY-W, et al. Inborn errors of metabolism and expanded newborn screening:review and update. Crit Rev Clin Lab Sci. 2013;50:142–162. DOI:10.3109/10408363.2013.847896
    • (2013) Crit Rev Clin Lab Sci , vol.50 , pp. 142-162
    • Mak, C.M.1    Lee, H.-C.H.2    Chan, A.Y.-W.3
  • 103
    • 33745106324 scopus 로고    scopus 로고
    • Natural history, outcome, and treatment efficacy in children and adults with glutaryl-coa dehydrogenase deficiency
    • Kolker S, Garbade SF, Greenberg CR, et al. Natural history, outcome, and treatment efficacy in children and adults with glutaryl-coa dehydrogenase deficiency. Pediatr Res. 2006;59:840–847. DOI:10.1203/01.pdr.0000219387.79887.86
    • (2006) Pediatr Res , vol.59 , pp. 840-847
    • Kolker, S.1    Garbade, S.F.2    Greenberg, C.R.3
  • 104
    • 79959781632 scopus 로고    scopus 로고
    • Diagnosis and management of glutaric aciduria type I–revised recommendations
    • Kolker S, Christensen E, Leonard JV, et al. Diagnosis and management of glutaric aciduria type I–revised recommendations. J Inherit Metab Dis. 2011;34:677–694. DOI:10.1007/s10545-011-9289-5
    • (2011) J Inherit Metab Dis , vol.34 , pp. 677-694
    • Kolker, S.1    Christensen, E.2    Leonard, J.V.3
  • 105
    • 84856496738 scopus 로고
    • Tyrosinemia type I
    • Pagon R.A., Adam M.P., Ardinger H.H., (eds), Seattle (WA): University of Washington
    • Sniderman King L, Trahms C, Scott CR. Tyrosinemia type I. In:Pagon RA, Adam MP, Ardinger HH, et al., Editors. GeneReviews. Seattle (WA):University of Washington. 1993.
    • (1993) GeneReviews
    • Sniderman King, L.1    Trahms, C.2    Scott, C.R.3
  • 106
    • 84908138847 scopus 로고    scopus 로고
    • Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
    • Baumgartner MR, Horster F, Dionisi-Vici C, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014;9:130. DOI:10.1186/s13023-014-0130-8
    • (2014) Orphanet J Rare Dis , vol.9 , pp. 130
    • Baumgartner, M.R.1    Horster, F.2    Dionisi-Vici, C.3
  • 107
    • 84942256076 scopus 로고    scopus 로고
    • Gaucher disease: a lysosomal neurodegenerative disorder
    • Huang WJ, Zhang X, Chen WW. Gaucher disease:a lysosomal neurodegenerative disorder. Eur Rev Med Pharmacol Sci. 2015;19:1219–1226.
    • (2015) Eur Rev Med Pharmacol Sci , vol.19 , pp. 1219-1226
    • Huang, W.J.1    Zhang, X.2    Chen, W.W.3
  • 108
    • 84867879736 scopus 로고    scopus 로고
    • Cultural aspects in the management of inborn errors of metabolism
    • Stockler S, Moeslinger D, Herle M, et al. Cultural aspects in the management of inborn errors of metabolism. J Inherit Metab Dis. 2012;35:1147–1152. DOI:10.1007/s10545-012-9455-4
    • (2012) J Inherit Metab Dis , vol.35 , pp. 1147-1152
    • Stockler, S.1    Moeslinger, D.2    Herle, M.3
  • 109
    • 84866179926 scopus 로고    scopus 로고
    • Nutritional treatment for inborn errors of metabolism: indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example
    • Camp KM, Lloyd-Puryear MA, Huntington KL. Nutritional treatment for inborn errors of metabolism:indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example. Mol Genet Metab. 2012;107:3–9. DOI:10.1016/j.ymgme.2012.07.005• First results of an open-label observational study of lysine restriction and first evidence for positive effects for the PDE patients.
    • (2012) Mol Genet Metab , vol.107 , pp. 3-9
    • Camp, K.M.1    Lloyd-Puryear, M.A.2    Huntington, K.L.3
  • 110
    • 84892391730 scopus 로고    scopus 로고
    • Single amino acid supplementation in aminoacidopathies: a systematic review
    • Van Vliet D, Derks TGJ, Van Rijn M, et al. Single amino acid supplementation in aminoacidopathies:a systematic review. Orphanet J Rare Dis. 2014;9:7. DOI:10.1186/1750-1172-9-7
    • (2014) Orphanet J Rare Dis , vol.9 , pp. 7
    • Van Vliet, D.1    Derks, T.G.J.2    Van Rijn, M.3
  • 111
    • 7244251623 scopus 로고    scopus 로고
    • Reduction of lysine intake while avoiding malnutrition–major goals and major problems in dietary treatment of glutaryl-CoA dehydrogenase deficiency
    • Muller E, Kolker S. Reduction of lysine intake while avoiding malnutrition–major goals and major problems in dietary treatment of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2004;27:903–910. DOI:10.1023/B:BOLI.0000045775.03183.48•• Detailed recommendations for lysine-restricted therapy:management, monitoring and follow-up strategies based on the PDE Consortium consensus.
    • (2004) J Inherit Metab Dis , vol.27 , pp. 903-910
    • Muller, E.1    Kolker, S.2
  • 112
    • 84867901867 scopus 로고    scopus 로고
    • Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials
    • Van Karnebeek CDM, Hartmann H, Jaggumantri S, et al. Lysine restricted diet for pyridoxine-dependent epilepsy:first evidence and future trials. Mol Genet Metab. 2012;107:335–344. DOI:10.1016/j.ymgme.2012.09.006• First suggestion of the use of arginine supplementation as adjunct to pyridoxine for PDE with the description of one case study.
    • (2012) Mol Genet Metab , vol.107 , pp. 335-344
    • Van Karnebeek, C.D.M.1    Hartmann, H.2    Jaggumantri, S.3
  • 113
    • 84905179629 scopus 로고    scopus 로고
    • Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect
    • Mercimek-Mahmutoglu S, Corderio D, Nagy L, et al. Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect. Mol Genet Metab Reports. 2014;1:124–128. DOI:10.1016/j.ymgmr.2014.02.001
    • (2014) Mol Genet Metab Reports , vol.1 , pp. 124-128
    • Mercimek-Mahmutoglu, S.1    Corderio, D.2    Nagy, L.3
  • 114
    • 85060302007 scopus 로고    scopus 로고
    • Lysine-restricted diet as adjunct therapy for pyridoxine-dependent epilepsy: the pde consortium consensus recommendations
    • Van Karnebeek CDM, Stockler-Ipsiroglu S, Jaggumantri S, et al. Lysine-restricted diet as adjunct therapy for pyridoxine-dependent epilepsy:the pde consortium consensus recommendations. JIMD Rep. 2014;15:1–11. DOI:10.1007/8904_2014_296
    • (2014) JIMD Rep , vol.15 , pp. 1-11
    • Van Karnebeek, C.D.M.1    Stockler-Ipsiroglu, S.2    Jaggumantri, S.3
  • 115
    • 84908337514 scopus 로고    scopus 로고
    • Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: l-arginine supplementation alternative to lysine-restricted diet
    • Mercimek-Mahmutoglu S, Cordeiro D, Cruz V, et al. Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect:l-arginine supplementation alternative to lysine-restricted diet. Eur J Paediatr Neurol. 2014;18:741–746. DOI:10.1016/j.ejpn.2014.07.001• First description of triple therapy (lysine-restricted diet, arginine supplementation and pyridoxine treatment) describing management, follow-ups and outcomes in six patients.
    • (2014) Eur J Paediatr Neurol , vol.18 , pp. 741-746
    • Mercimek-Mahmutoglu, S.1    Cordeiro, D.2    Cruz, V.3
  • 116
    • 33745827730 scopus 로고    scopus 로고
    • Cationic amino acid transport across the blood-brain barrier is mediated exclusively by system y+
    • O’Kane RL, Vina JR, Simpson I, et al. Cationic amino acid transport across the blood-brain barrier is mediated exclusively by system y+. Am J Physiol Endocrinol Metab. 2006;291:E412–9. DOI:10.1152/ajpendo.00007.2006
    • (2006) Am J Physiol Endocrinol Metab , vol.291 , pp. E412-E419
    • O’Kane, R.L.1    Vina, J.R.2    Simpson, I.3
  • 117
    • 0027263315 scopus 로고
    • Identification of the cationic amino acid transporter (system y+) of the rat blood-brain barrier
    • Stoll J, Wadhwani KC, Smith QR. Identification of the cationic amino acid transporter (system y+) of the rat blood-brain barrier. J Neurochem. 1993;60:1956–1959.
    • (1993) J Neurochem , vol.60 , pp. 1956-1959
    • Stoll, J.1    Wadhwani, K.C.2    Smith, Q.R.3
  • 118
    • 84940896596 scopus 로고    scopus 로고
    • Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: neurodevelopmental outcome
    • 2nd Coughlin CR, Van Karnebeek CDM, Al-Hertani W, et al. Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy:neurodevelopmental outcome. Mol Genet Metab. 2015;116:35–43. DOI:10.1016/j.ymgme.2015.05.011
    • (2015) Mol Genet Metab , vol.116 , pp. 35-43
    • Van Karnebeek, C.D.M.1    Al-Hertani, W.2
  • 119
    • 84969286332 scopus 로고    scopus 로고
    • A prospective case study of the safety and efficacy of lysine-restricted diet and arginine supplementation therapy in a patient with pyridoxine-dependent epilepsy caused by mutations in ALDH7A1
    • Mahajnah M, Corderio D, Austin V, et al. A prospective case study of the safety and efficacy of lysine-restricted diet and arginine supplementation therapy in a patient with pyridoxine-dependent epilepsy caused by mutations in ALDH7A1. Pediatr Neurol. 2016;60:60–65. DOI:10.1016/j.pediatrneurol.2016.03.008
    • (2016) Pediatr Neurol , vol.60 , pp. 60-65
    • Mahajnah, M.1    Corderio, D.2    Austin, V.3
  • 120
    • 84959560977 scopus 로고    scopus 로고
    • Metabolic Diet App Suite for inborn errors of amino acid metabolism
    • Ho G, Ueda K, Houben RFA, et al. Metabolic Diet App Suite for inborn errors of amino acid metabolism. Mol Genet Metab. 2016;117:322–327. DOI:10.1016/j.ymgme.2015.12.007
    • (2016) Mol Genet Metab , vol.117 , pp. 322-327
    • Ho, G.1    Ueda, K.2    Houben, R.F.A.3
  • 121
    • 0034687154 scopus 로고    scopus 로고
    • proton abstraction reaction, steady-state kinetics, and oxidation−reduction potential of human glutaryl-coa dehydrogenase
    • Dwyer TM, Rao KS, Goodman SI, et al. proton abstraction reaction, steady-state kinetics, and oxidation−reduction potential of human glutaryl-coa dehydrogenase. Biochemistry. 2000;39:11488–11499. DOI:10.1021/bi000700g
    • (2000) Biochemistry , vol.39 , pp. 11488-11499
    • Dwyer, T.M.1    Rao, K.S.2    Goodman, S.I.3
  • 122
    • 33645881325 scopus 로고    scopus 로고
    • Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-coA dehydrogenase deficiency
    • Sauer SW, Okun JG, Fricker G, et al. Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-coA dehydrogenase deficiency. J Neurochem. 2006;97:899–910. DOI:10.1111/j.1471-4159.2006.03813.x
    • (2006) J Neurochem , vol.97 , pp. 899-910
    • Sauer, S.W.1    Okun, J.G.2    Fricker, G.3
  • 123
    • 84866158595 scopus 로고    scopus 로고
    • Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience
    • Kolker S, Boy SPN, Heringer J, et al. Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience. Mol Genet Metab. 2012;107:72–80. DOI:10.1016/j.ymgme.2012.03.021
    • (2012) Mol Genet Metab , vol.107 , pp. 72-80
    • Kolker, S.1    Boy, S.P.N.2    Heringer, J.3
  • 125
    • 78249270079 scopus 로고    scopus 로고
    • Use of guidelines improves the neurological outcome in glutaric aciduria type I
    • Heringer J, Boy SPN, Ensenauer R, et al. Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol. 2010;68:743–752. DOI:10.1002/ana.22095
    • (2010) Ann Neurol , vol.68 , pp. 743-752
    • Heringer, J.1    Boy, S.P.N.2    Ensenauer, R.3
  • 126
    • 80052548284 scopus 로고    scopus 로고
    • Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-coA dehydrogenase deficiency: focus on cerebral amino acid influx
    • Strauss KA, Brumbaugh J, Duffy A, et al. Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-coA dehydrogenase deficiency:focus on cerebral amino acid influx. Mol Genet Metab. 2011;104:93–106. DOI:10.1016/j.ymgme.2011.07.003
    • (2011) Mol Genet Metab , vol.104 , pp. 93-106
    • Strauss, K.A.1    Brumbaugh, J.2    Duffy, A.3
  • 127
    • 78650692977 scopus 로고    scopus 로고
    • Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I
    • Sauer SW, Opp S, Hoffmann GF, et al. Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I. Brain. 2011;134:157–170. DOI:10.1093/brain/awq269
    • (2011) Brain , vol.134 , pp. 157-170
    • Sauer, S.W.1    Opp, S.2    Hoffmann, G.F.3
  • 128
    • 78651336157 scopus 로고    scopus 로고
    • Nutrition management of patients with inherited disorders of organic acid metabolism
    • Acosta P., (ed), Boston: Jones and Bartlett publishers
    • Yannicelli S. Nutrition management of patients with inherited disorders of organic acid metabolism. In:Acosta P, Editor. Nutrition management of patients with inherited metabolic disorders. Boston:Jones and Bartlett publishers; 2010. p. 314.
    • (2010) Nutrition management of patients with inherited metabolic disorders , pp. 314
    • Yannicelli, S.1
  • 129
    • 33645087918 scopus 로고    scopus 로고
    • A diet-induced mouse model for glutaric aciduria type I
    • Zinnanti WJ, Lazovic J, Wolpert EB, et al. A diet-induced mouse model for glutaric aciduria type I. Brain. 2006;129:899–910. DOI:10.1093/brain/awl009
    • (2006) Brain , vol.129 , pp. 899-910
    • Zinnanti, W.J.1    Lazovic, J.2    Wolpert, E.B.3
  • 130
    • 84864358291 scopus 로고    scopus 로고
    • Glutaric acidemia type 1: outcomes before and after expanded newborn screening
    • Viau K, Ernst SL, Vanzo RJ, et al. Glutaric acidemia type 1:outcomes before and after expanded newborn screening. Mol Genet Metab. 2012;106:430–438. DOI:10.1016/j.ymgme.2012.05.024
    • (2012) Mol Genet Metab , vol.106 , pp. 430-438
    • Viau, K.1    Ernst, S.L.2    Vanzo, R.J.3
  • 131
    • 0015016019 scopus 로고
    • The conversion of l-lysine to saccharopine and α-aminoadipate in mouse
    • Higashino Y, Fujioka K, Yamamura M. The conversion of l-lysine to saccharopine and α-aminoadipate in mouse.Arch Biochem Biophys. 1971;142:606–614. DOI:10.1016/0003-9861(71)90525-X
    • (1971) Arch Biochem Biophys , vol.142 , pp. 606-614
    • Higashino, Y.1    Fujioka, K.2    Yamamura, M.3
  • 132
    • 0028170488 scopus 로고
    • Lysine-α-ketoglutarate reductase and saccharopine dehydrogenase are located only in the mitochondrial matrix in rat liver
    • [Internet]
    • Blemings N, Crenshaw KP, Swick TD, et al. Lysine-α-ketoglutarate reductase and saccharopine dehydrogenase are located only in the mitochondrial matrix in rat liver. J Nutr. [Internet]. 1994;124:1215–1221.
    • (1994) J Nutr , vol.124 , pp. 1215-1221
    • Blemings, N.1    Crenshaw, K.P.2    Swick, T.D.3
  • 133
    • 0033460218 scopus 로고    scopus 로고
    • involvement of both bifunctional and monofunctional lysine-degrading enzymes in mouse
    • Papes F, Kemper EL, Cord-Neto G, et al. involvement of both bifunctional and monofunctional lysine-degrading enzymes in mouse. Biochem J. 1999;344:555–563.
    • (1999) Biochem J , vol.344 , pp. 555-563
    • Papes, F.1    Kemper, E.L.2    Cord-Neto, G.3
  • 134
    • 0035846845 scopus 로고    scopus 로고
    • The essential amino acid lysine acts as precursor of glutamate in the mammalian central nervous system
    • [Internet]
    • Papes F, Surpili MJ, Langone F, et al. The essential amino acid lysine acts as precursor of glutamate in the mammalian central nervous system. FEBS Lett. [Internet]. 2001;488:34–38.
    • (2001) FEBS Lett , vol.488 , pp. 34-38
    • Papes, F.1    Surpili, M.J.2    Langone, F.3
  • 135
    • 84993990158 scopus 로고    scopus 로고
    • Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway; implications for pyridoxine dependent epilepsy (PDE)
    • Pena IA, Marques LA, Laranjeira ABA, et al. Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway; implications for pyridoxine dependent epilepsy (PDE). Biochim Biophys Acta. 2017;1863:121–128. DOI:10.1016/j.bbadis.2016.09.006
    • (2017) Biochim Biophys Acta , vol.1863 , pp. 121-128
    • Pena, I.A.1    Marques, L.A.2    Laranjeira, A.B.A.3
  • 136
    • 84928902105 scopus 로고    scopus 로고
    • A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair
    • Rzem R, Achouri Y, Marbaix E, et al. A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair. Plos One. 2015;10. DOI:10.1371/journal.pone.0119540
    • (2015) Plos One , vol.10
    • Rzem, R.1    Achouri, Y.2    Marbaix, E.3
  • 137
    • 84923829984 scopus 로고    scopus 로고
    • Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in gcdh-deficient mice as a model for glutaric aciduria type I
    • Posset R, Opp S, A Struys E, et al. Understanding cerebral L-lysine metabolism:the role of L-pipecolate metabolism in gcdh-deficient mice as a model for glutaric aciduria type I. J Inherit Metab Dis. 2014. DOI:10.1007/s10545-014-9762-z
    • (2014) J Inherit Metab Dis
    • Posset, R.1    Opp, S.2    A Struys, E.3
  • 138
    • 0021199211 scopus 로고
    • Familial hyperlysinemias. Purification and characterization of the bifunctional aminoadipic semialdehyde synthase with lysine-ketoglutarate reductase and saccharopine dehydrogenase activities
    • Markovitz PJ, Chuang DT, Cox RP. Familial hyperlysinemias. Purification and characterization of the bifunctional aminoadipic semialdehyde synthase with lysine-ketoglutarate reductase and saccharopine dehydrogenase activities. J Biol Chem. 1984;259:11643–11646.
    • (1984) J Biol Chem , vol.259 , pp. 11643-11646
    • Markovitz, P.J.1    Chuang, D.T.2    Cox, R.P.3
  • 139
    • 84875876431 scopus 로고    scopus 로고
    • Genetic basis of hyperlysinemia
    • [Internet], Available from
    • Houten SM, Te Brinke H, Denis S, et al. Genetic basis of hyperlysinemia. Orphanet J Rare Dis. [Internet]. 2013;8:57. Available from:http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3626681&tool=pmcentrez&rendertype=abstract
    • (2013) Orphanet J Rare Dis , vol.8 , pp. 57
    • Houten, S.M.1    Te Brinke, H.2    Denis, S.3
  • 140
    • 0035196687 scopus 로고    scopus 로고
    • The pathophysiology and treatment of hereditary tyrosinemia type 1
    • Grompe M. The pathophysiology and treatment of hereditary tyrosinemia type 1. Semin Liver Dis. 2001;21:563–571. DOI:10.1055/s-2001-19035
    • (2001) Semin Liver Dis , vol.21 , pp. 563-571
    • Grompe, M.1
  • 141
    • 84977584286 scopus 로고    scopus 로고
    • Less is more: substrate reduction therapy for lysosomal storage disorders
    • Coutinho MF, Santos JI, Alves S. Less is more:substrate reduction therapy for lysosomal storage disorders. Int J Mol Sci. 2016;17. DOI:10.3390/ijms17071065
    • (2016) Int J Mol Sci , vol.17
    • Coutinho, M.F.1    Santos, J.I.2    Alves, S.3
  • 142
    • 0038777078 scopus 로고    scopus 로고
    • Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders
    • Butters TD, Mellor HR, Narita K, et al. Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders. Philos Trans R Soc Lond B Biol Sci. 2003;358:927–945. DOI:10.1098/rstb.2003.1278
    • (2003) Philos Trans R Soc Lond B Biol Sci , vol.358 , pp. 927-945
    • Butters, T.D.1    Mellor, H.R.2    Narita, K.3
  • 143
    • 0035020269 scopus 로고    scopus 로고
    • Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy
    • Platt FM, Jeyakumar M, Andersson U, et al. Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy. J Inherit Metab Dis. 2001;24:275–290.
    • (2001) J Inherit Metab Dis , vol.24 , pp. 275-290
    • Platt, F.M.1    Jeyakumar, M.2    Andersson, U.3
  • 144
    • 0026101107 scopus 로고
    • Species variation in organellar location and activity o f L-pipecolic acid oxidation in mammals
    • Mihalik SJ, Rhead WJ. Species variation in organellar location and activity o f L-pipecolic acid oxidation in mammals. J Comp Physiol B. 1991;160:671–675.
    • (1991) J Comp Physiol B , vol.160 , pp. 671-675
    • Mihalik, S.J.1    Rhead, W.J.2
  • 145
    • 0025893001 scopus 로고
    • L ysine-pipecolic acid metabolic relationships in microbes and mammals
    • Broquist HP. L ysine-pipecolic acid metabolic relationships in microbes and mammals. Annu Rev Nutr. 1991;11:435–438.
    • (1991) Annu Rev Nutr , vol.11 , pp. 435-438
    • Broquist, H.P.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.