메뉴 건너뛰기




Volumn 77, Issue 1, 2015, Pages 91-98

Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency-related leukodystrophy

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYBUTYRIC ACID; ACETOACETIC ACID; BACLOFEN; CARNITINE; HYDROXYBUTYRIC ACID; RIBOFLAVIN; SODIUM D L 3 HYDROXYBUTYRATE; UBIQUINONE; UNCLASSIFIED DRUG; FAT INTAKE; KETONE; UBIDECARENONE;

EID: 84927939764     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1038/pr.2014.154     Document Type: Article
Times cited : (21)

References (33)
  • 1
    • 0003013226 scopus 로고    scopus 로고
    • Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase: Glutaric acidemia type II
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. 8th ed. New York: McGraw-Hill
    • Frerman F, Goodman SI. Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase: glutaric acidemia type II. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill, 2001:2357-65
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 2357-2365
    • Frerman, F.1    Goodman, S.I.2
  • 3
    • 0025010001 scopus 로고
    • Electron transfer flavoprotein: Ubiquinone oxidoreductase (ETF:QO) deficiency in an adult
    • Bell RB, Brownell AK, Roe CR, et al. Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adult. Neurology 1990;40:1779-82
    • (1990) Neurology , vol.40 , pp. 1779-1782
    • Bell, R.B.1    Brownell, A.K.2    Roe, C.R.3
  • 4
    • 77954692724 scopus 로고    scopus 로고
    • Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency
    • Pollard LM, Williams NR, Espinoza L, et al. Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency. J Child Neurol 2010;25:954-60
    • (2010) J Child Neurol , vol.25 , pp. 954-960
    • Pollard, L.M.1    Williams, N.R.2    Espinoza, L.3
  • 5
    • 84897954933 scopus 로고    scopus 로고
    • Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle
    • Wolfe LA, He M, Vockley J, et al. Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle. J Inherit Metab Dis 2010;33:Suppl 3:S481-7
    • (2010) J Inherit Metab Dis , vol.33 , pp. S481-S487
    • Wolfe, L.A.1    He, M.2    Vockley, J.3
  • 6
    • 77956254729 scopus 로고    scopus 로고
    • Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II
    • Lee HC, Lai CK, Siu TS, et al. Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II. Diagn Mol Pathol 2010;19:184-6
    • (2010) Diagn Mol Pathol , vol.19 , pp. 184-186
    • Lee, H.C.1    Lai, C.K.2    Siu, T.S.3
  • 7
    • 0020528080 scopus 로고
    • Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide
    • Niederwieser A, Steinmann B, Exner U, et al. Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide. Helv Paediatr Acta 1983;38:9-26
    • (1983) Helv Paediatr Acta , vol.38 , pp. 9-26
    • Niederwieser, A.1    Steinmann, B.2    Exner, U.3
  • 9
    • 0029589517 scopus 로고
    • Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy
    • Uziel G, Garavaglia B, Ciceri E, Moroni I, Rimoldi M. Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy. Pediatr Neurol 1995;13:333-5
    • (1995) Pediatr Neurol , vol.13 , pp. 333-335
    • Uziel, G.1    Garavaglia, B.2    Ciceri, E.3    Moroni, I.4    Rimoldi, M.5
  • 10
    • 0001369922 scopus 로고    scopus 로고
    • Oral sodium 3-hydroxybutyrate, a novel adjunct to treatment for multiple acyl CoA dehydrogenase deficiency
    • Bonham JR, Tanner MS, Pollitt RJ, et al. Oral sodium 3-hydroxybutyrate, a novel adjunct to treatment for multiple acyl CoA dehydrogenase deficiency. J Inherit Metab Dis 1999;22:101
    • (1999) J Inherit Metab Dis , vol.22 , pp. 101
    • Bonham, J.R.1    Tanner, M.S.2    Pollitt, R.J.3
  • 11
    • 0035992255 scopus 로고    scopus 로고
    • Oral beta-hydroxybutyrate supplementation in two patients with hyperinsulinemic hypoglycemia: Monitoring of beta-hydroxybutyrate levels in blood and cerebrospinal fluid, and in the brain by in vivo magnetic resonance spectroscopy
    • Plecko B, Stoeckler-Ipsiroglu S, Schober E, et al. Oral beta-hydroxybutyrate supplementation in two patients with hyperinsulinemic hypoglycemia: monitoring of beta-hydroxybutyrate levels in blood and cerebrospinal fluid, and in the brain by in vivo magnetic resonance spectroscopy. Pediatr Res 2002;52:301-6
    • (2002) Pediatr Res , vol.52 , pp. 301-306
    • Plecko, B.1    Stoeckler-Ipsiroglu, S.2    Schober, E.3
  • 12
    • 80855156777 scopus 로고    scopus 로고
    • Successful treatment of severe cardiomyopathy in glycogen storage disease type III with D,L-3-hydroxybutyrate, ketogenic and high-protein diet
    • Valayannopoulos V, Bajolle F, Arnoux JB, et al. Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet. Pediatr Res 2011;70:638-41
    • (2011) Pediatr Res , vol.70 , pp. 638-641
    • Valayannopoulos, V.1    Bajolle, F.2    Arnoux, J.B.3
  • 13
    • 0242348802 scopus 로고    scopus 로고
    • D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD)
    • Van Hove JL, Grunewald S, Jaeken J, et al. D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD). Lancet 2003;361:1433-5
    • (2003) Lancet , vol.361 , pp. 1433-1435
    • Van Hove, J.L.1    Grunewald, S.2    Jaeken, J.3
  • 14
    • 84889875451 scopus 로고    scopus 로고
    • Lactate, pyruvate, acetoacetate and 3-hydroxybutyrate
    • Blau N, Duran N, Gibson KM, eds. Berlin, Germany: Springer-Verlag
    • Vassault A. Lactate, pyruvate, acetoacetate and 3-hydroxybutyrate. In: Blau N, Duran N, Gibson KM, eds. Laboratory Guide to the Methods in Biochemical Genetics. Berlin, Germany: Springer-Verlag, 2008:35-51
    • (2008) Laboratory Guide to the Methods in Biochemical Genetics , pp. 35-51
    • Vassault, A.1
  • 16
    • 84862136104 scopus 로고    scopus 로고
    • Characterization of D-3-hydroxybutyrylcarnitine (ketocarnitine): An identified ketosis-induced metabolite
    • Soeters MR, Serlie MJ, Sauerwein HP, et al. Characterization of D-3-hydroxybutyrylcarnitine (ketocarnitine): an identified ketosis-induced metabolite. Metab Clin Exp 2012;61:966-73
    • (2012) Metab Clin Exp , vol.61 , pp. 966-973
    • Soeters, M.R.1    Serlie, M.J.2    Sauerwein, H.P.3
  • 17
    • 0019296059 scopus 로고
    • Enzymes of L-(+)-3-hydroxybutyrate metabolism in the rat
    • Reed WD, Ozand PT. Enzymes of L-(+)-3-hydroxybutyrate metabolism in the rat. Arch Biochem Biophys 1980;205:94-103
    • (1980) Arch Biochem Biophys , vol.205 , pp. 94-103
    • Reed, W.D.1    Ozand, P.T.2
  • 18
    • 0021263640 scopus 로고
    • The metabolism of Dand L-3-hydroxybutyrate in developing rat brain
    • Swiatek KR, Dombrowski GJ Jr, Chao KL. The metabolism of Dand L-3-hydroxybutyrate in developing rat brain. Biochem Med 1984;31:332-46
    • (1984) Biochem Med , vol.31 , pp. 332-346
    • Swiatek, K.R.1    Dombrowski, G.J.2    Chao, K.L.3
  • 19
    • 32044461322 scopus 로고    scopus 로고
    • Stereoselective effects of 3-hydroxybutyrate on glucose utilization of rat cardiomyocytes
    • Tsai YC, Chou YC, Wu AB, et al. Stereoselective effects of 3-hydroxybutyrate on glucose utilization of rat cardiomyocytes. Life Sci 2006;78:1385-91
    • (2006) Life Sci , vol.78 , pp. 1385-1391
    • Tsai, Y.C.1    Chou, Y.C.2    Wu, A.B.3
  • 21
    • 0015975708 scopus 로고
    • Ketone bodies as precursors of sterols and fatty acids in the developing rat
    • Edmond J. Ketone bodies as precursors of sterols and fatty acids in the developing rat. J Biol Chem 1974;249:72-80
    • (1974) J Biol Chem , vol.249 , pp. 72-80
    • Edmond, J.1
  • 22
    • 4644354417 scopus 로고    scopus 로고
    • Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with lateonset multiple acyl-CoA dehydrogenation deficiency
    • Olsen RK, Pourfarzam M, Morris AA, et al. Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with lateonset multiple acyl-CoA dehydrogenation deficiency. J Inherit Metab Dis 2004;27:671-8
    • (2004) J Inherit Metab Dis , vol.27 , pp. 671-678
    • Olsen, R.K.1    Pourfarzam, M.2    Morris, A.A.3
  • 23
    • 0034152434 scopus 로고    scopus 로고
    • Glutaric aciduria type II: Observations in seven patients with neonatal-and late-onset disease
    • al-Essa MA, Rashed MS, Bakheet SM, Patay ZJ, Ozand PT. Glutaric aciduria type II: observations in seven patients with neonatal-and late-onset disease. J Perinatol 2000;20:120-8
    • (2000) J Perinatol , vol.20 , pp. 120-128
    • Al-Essa, M.A.1    Rashed, M.S.2    Bakheet, S.M.3    Patay, Z.J.4    Ozand, P.T.5
  • 24
    • 0020064334 scopus 로고
    • Glutaric acidemia type II: Clinical, biochemical, and morphologic considerations
    • Goodman SI, Stene DO, McCabe ER, et al. Glutaric acidemia type II: clinical, biochemical, and morphologic considerations. J Pediatr 1982;100:946-50
    • (1982) J Pediatr , vol.100 , pp. 946-950
    • Goodman, S.I.1    Stene, D.O.2    McCabe, E.R.3
  • 25
    • 37049033294 scopus 로고    scopus 로고
    • Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II
    • Angle B, Burton BK. Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II. Mol Genet Metab 2008;93:36-9
    • (2008) Mol Genet Metab , vol.93 , pp. 36-39
    • Angle, B.1    Burton, B.K.2
  • 26
    • 40949113699 scopus 로고    scopus 로고
    • Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: A clinico-pathological correlation and review of literature
    • Singla M, Guzman G, Griffin AJ, Bharati S. Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: A clinico-pathological correlation and review of literature. Pediatr Cardiol 2008;29:446-51
    • (2008) Pediatr Cardiol , vol.29 , pp. 446-451
    • Singla, M.1    Guzman, G.2    Griffin, A.J.3    Bharati, S.4
  • 27
    • 0036804939 scopus 로고    scopus 로고
    • A survey of Japanese patients with mitochondrial fatty acid beta-oxidation and related disorders as detected from 1985 to 2000
    • Tamaoki Y, Kimura M, Hasegawa Y, Iga M, Inoue M, Yamaguchi S. A survey of Japanese patients with mitochondrial fatty acid beta-oxidation and related disorders as detected from 1985 to 2000. Brain Dev 2002;24:675-80
    • (2002) Brain Dev , vol.24 , pp. 675-680
    • Tamaoki, Y.1    Kimura, M.2    Hasegawa, Y.3    Iga, M.4    Inoue, M.5    Yamaguchi, S.6
  • 28
    • 0027563541 scopus 로고
    • Bilateral basal ganglia lesions: Pediatric differential considerations
    • Ho VB, Fitz CR, Chuang SH, Geyer CA. Bilateral basal ganglia lesions: pediatric differential considerations. Radiographics 1993;13:269-92
    • (1993) Radiographics , vol.13 , pp. 269-292
    • Ho, V.B.1    Fitz, C.R.2    Chuang, S.H.3    Geyer, C.A.4
  • 29
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-9
    • (2010) Nat Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3
  • 30
    • 78751544406 scopus 로고    scopus 로고
    • Development and reliability of a classification system for gross motor function in children with metachromatic leucodystrophy
    • Kehrer C, Blumenstock G, Raabe C, Krageloh-Mann I. Development and reliability of a classification system for gross motor function in children with metachromatic leucodystrophy. Dev Med Child Neurol 2011;53:156-60
    • (2011) Dev Med Child Neurol , vol.53 , pp. 156-160
    • Kehrer, C.1    Blumenstock, G.2    Raabe, C.3    Krageloh-Mann, I.4
  • 31
    • 33745282965 scopus 로고    scopus 로고
    • The Manual Ability Classification System (MACS) for children with cerebral palsy: Scale development and evidence of validity and reliability
    • Eliasson AC, Krumlinde-Sundholm L, Rosblad B, et al. The Manual Ability Classification System (MACS) for children with cerebral palsy: scale development and evidence of validity and reliability. Dev Med Child Neurol 2006;48:549-54
    • (2006) Dev Med Child Neurol , vol.48 , pp. 549-554
    • Eliasson, A.C.1    Krumlinde-Sundholm, L.2    Rosblad, B.3
  • 32
    • 84879413892 scopus 로고    scopus 로고
    • Optimized quantitative magnetic resonance spectroscopy for clinical routine
    • Scheidegger O, Wingeier K, Stefan D, et al. Optimized quantitative magnetic resonance spectroscopy for clinical routine. Magn Reson Med 2013;70:25-32
    • (2013) Magn Reson Med , vol.70 , pp. 25-32
    • Scheidegger, O.1    Wingeier, K.2    Stefan, D.3
  • 33
    • 84927920678 scopus 로고
    • 3-hydroxybutyrate dehydrogenase
    • Bergmeyer HU, Bergmeyer J, Grassl M, eds. 3rd ed. Weinheim, Germany: Verlag Chemie
    • Bergmeyer HU. 3-hydroxybutyrate dehydrogenase. In: Bergmeyer HU, Bergmeyer J, Grassl M, eds. Methods of Enzymatic Analysis. 3rd ed. Weinheim, Germany: Verlag Chemie, 1983:226-8.
    • (1983) Methods of Enzymatic Analysis , pp. 226-228
    • Bergmeyer, H.U.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.