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Volumn 86, Issue 1-2, 2005, Pages 124-133

Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency

Author keywords

Chorioretinopathy; Docosahexaenoic acid; Hydroxyacylcarnitines; Long chain 3 hydroxyacyl CoA dehydrogenase deficiency; Trifunctional protein deficiency

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; 3 HYDROXYACYLCARNITINE; CARNITINE DERIVATIVE; DOCOSAHEXAENOIC ACID; GUANINE NUCLEOTIDE; LONG CHAIN 3 HYDROXYACYL COENYZME A DEHYDROGENASE; PROTEIN; PYRIMIDINE NUCLEOTIDE; TRIFUNCTIONAL PROTEIN BETA; UNCLASSIFIED DRUG;

EID: 26244444855     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.06.001     Document Type: Article
Times cited : (70)

References (41)
  • 1
    • 0031914110 scopus 로고    scopus 로고
    • Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid beta-oxidation disorders
    • C.G. Costa, L. Dorland, U. Holwerda, I.T. de Almeida, B.T. Poll-The, C. Jakobs, and M. Duran Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid beta-oxidation disorders Clin. Chem. 44 1998 463 471
    • (1998) Clin. Chem. , vol.44 , pp. 463-471
    • Costa, C.G.1    Dorland, L.2    Holwerda, U.3    De Almeida, I.T.4    Poll-The, B.T.5    Jakobs, C.6    Duran, M.7
  • 3
    • 0036140895 scopus 로고    scopus 로고
    • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Clinical presentation and follow-up of 50 patients
    • M.E. den Boer, R.J. Wanders, A.A. Morris, I.J. Lodewijk, H.S. Heymans, and F.A. Wijburg Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients Pediatrics 109 2002 99 104
    • (2002) Pediatrics , vol.109 , pp. 99-104
    • Den Boer, M.E.1    Wanders, R.J.2    Morris, A.A.3    Lodewijk, I.J.4    Heymans, H.S.5    Wijburg, F.A.6
  • 4
    • 0032957435 scopus 로고    scopus 로고
    • Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). a case report and survey
    • M. Gillingham, S.C. Van Calcar, D.M. Ney, J. Wolff, and C.O. Harding Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey J. Inherit. Metab. Dis. 22 1999 123 131
    • (1999) J. Inherit. Metab. Dis. , vol.22 , pp. 123-131
    • Gillingham, M.1    Van Calcar, S.C.2    Ney, D.M.3    Wolff, J.4    Harding, C.O.5
  • 6
    • 0030775662 scopus 로고    scopus 로고
    • Long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients [see comments]
    • T. Tyni, A. Palotie, L. Viinikka, L. Valanne, M.K. Salo, U. von Dobeln, S. Jackson, R. Wanders, N. Venizelos, and H. Pihko Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients [see comments] J. Pediatr. 130 1997 67 76
    • (1997) J. Pediatr. , vol.130 , pp. 67-76
    • Tyni, T.1    Palotie, A.2    Viinikka, L.3    Valanne, L.4    Salo, M.K.5    Von Dobeln, U.6    Jackson, S.7    Wanders, R.8    Venizelos, N.9    Pihko, H.10
  • 8
    • 0031956979 scopus 로고    scopus 로고
    • Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: A new type of hereditary metabolic chorioretinopathy
    • T. Tyni, T. Kivela, M. Lappi, P. Summanen, E. Nikoskelainen, and H. Pihko Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy Ophthalmology 105 1998 810 824
    • (1998) Ophthalmology , vol.105 , pp. 810-824
    • Tyni, T.1    Kivela, T.2    Lappi, M.3    Summanen, P.4    Nikoskelainen, E.5    Pihko, H.6
  • 9
    • 0033038553 scopus 로고    scopus 로고
    • Docosahexaenoic acid (DHA) and retinal function in children with long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
    • C.O. Harding, M.B. Gillingham, S.C. Van Calcar, J.A. Wolff, J.N. Verhoeve, and M.D. Mills Docosahexaenoic acid (DHA) and retinal function in children with long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency J. Inherit. Met. Dis. 22 1999 276 280
    • (1999) J. Inherit. Met. Dis. , vol.22 , pp. 276-280
    • Harding, C.O.1    Gillingham, M.B.2    Van Calcar, S.C.3    Wolff, J.A.4    Verhoeve, J.N.5    Mills, M.D.6
  • 13
    • 0029811021 scopus 로고    scopus 로고
    • Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: Molecular characterization of a novel maternal mutant allele
    • J.D. Isaacs Jr., H.F. Sims, C.K. Powell, M.J. Bennett, D.E. Hale, W.R. Treem, and A.W. Strauss Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele Pediatr. Res. 40 1996 393 398
    • (1996) Pediatr. Res. , vol.40 , pp. 393-398
    • Isaacs Jr., J.D.1    Sims, H.F.2    Powell, C.K.3    Bennett, M.J.4    Hale, D.E.5    Treem, W.R.6    Strauss, A.W.7
  • 15
    • 0037903252 scopus 로고    scopus 로고
    • Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations
    • U. Spiekerkoetter, B. Sun, Z. Khuchua, M.J. Bennett, and A.W. Strauss Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations Hum. Mutat. 21 2003 598 607
    • (2003) Hum. Mutat. , vol.21 , pp. 598-607
    • Spiekerkoetter, U.1    Sun, B.2    Khuchua, Z.3    Bennett, M.J.4    Strauss, A.W.5
  • 17
    • 0035718040 scopus 로고    scopus 로고
    • Quantitative determination of plasma c8-c26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders
    • S.A. Lagerstedt, D.R. Hinrichs, S.M. Batt, M.J. Magera, P. Rinaldo, and J.P. McConnell Quantitative determination of plasma c8-c26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders Mol. Genet. Metab. 73 2001 38 45
    • (2001) Mol. Genet. Metab. , vol.73 , pp. 38-45
    • Lagerstedt, S.A.1    Hinrichs, D.R.2    Batt, S.M.3    Magera, M.J.4    Rinaldo, P.5    McConnell, J.P.6
  • 18
    • 0032935287 scopus 로고    scopus 로고
    • Plasma and red blood cell fatty acids in peroxisomal disorders
    • A.J. Moser, G.V. Raymond, and H.W. Moser Plasma and red blood cell fatty acids in peroxisomal disorders Neurochem. Res. 24 1999 187 197
    • (1999) Neurochem. Res. , vol.24 , pp. 187-197
    • Moser, A.J.1    Raymond, G.V.2    Moser, H.W.3
  • 19
    • 0032978083 scopus 로고    scopus 로고
    • Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis
    • D. Matern, A.W. Strauss, S.L. Hillman, E. Mayatepek, D.S. Millington, and F.K. Trefz Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis Pediatr. Res. 46 1999 45 49
    • (1999) Pediatr. Res. , vol.46 , pp. 45-49
    • Matern, D.1    Strauss, A.W.2    Hillman, S.L.3    Mayatepek, E.4    Millington, D.S.5    Trefz, F.K.6
  • 20
    • 0029018990 scopus 로고
    • Standard for clinical electroretinography (1994 update)
    • M.F. Marmor, and E. Zrenner Standard for clinical electroretinography (1994 update) Doc. Ophthalmol. 89 1995 199 210
    • (1995) Doc. Ophthalmol. , vol.89 , pp. 199-210
    • Marmor, M.F.1    Zrenner, E.2
  • 21
    • 4744361095 scopus 로고    scopus 로고
    • Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease)
    • R.G. Weleber, N. Gupta, K.M. Trzupek, M.S. Wepner, D.E. Kurz, and A.H. Milam Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease) Mol. Genet. Metab. 83 2004 128 137
    • (2004) Mol. Genet. Metab. , vol.83 , pp. 128-137
    • Weleber, R.G.1    Gupta, N.2    Trzupek, K.M.3    Wepner, M.S.4    Kurz, D.E.5    Milam, A.H.6
  • 22
    • 0019413127 scopus 로고
    • The effect of age on human cone and rod ganzfeld electroretinograms
    • R.G. Weleber The effect of age on human cone and rod ganzfeld electroretinograms Invest. Ophthalmol. Vis. Sci. 20 1981 392 399
    • (1981) Invest. Ophthalmol. Vis. Sci. , vol.20 , pp. 392-399
    • Weleber, R.G.1
  • 23
    • 0022370891 scopus 로고
    • Spatial frequency sweep VEP: Visual acuity during the first year of life
    • A.M. Norcia, and C.W. Tyler Spatial frequency sweep VEP: visual acuity during the first year of life Vision Res. 25 1985 1399 1408
    • (1985) Vision Res. , vol.25 , pp. 1399-1408
    • Norcia, A.M.1    Tyler, C.W.2
  • 24
    • 0031238899 scopus 로고    scopus 로고
    • An electrophysiological technique for assessment of the development of spatial vision
    • V. Zemon, E.E. Hartmann, J. Gordon, and A. Prunte-Glowazki An electrophysiological technique for assessment of the development of spatial vision Optomol. Vis. Sci. 74 1997 708 716
    • (1997) Optomol. Vis. Sci. , vol.74 , pp. 708-716
    • Zemon, V.1    Hartmann, E.E.2    Gordon, J.3    Prunte-Glowazki, A.4
  • 26
    • 0033166726 scopus 로고    scopus 로고
    • VEP and PERG acuity in anesthetized young adult rhesus monkeys
    • J.N. Ver Hoeve, Y.P. Danilov, C.B. Kim, and P.D. Spear VEP and PERG acuity in anesthetized young adult rhesus monkeys Vis. Neurosci. 16 1999 607 617
    • (1999) Vis. Neurosci. , vol.16 , pp. 607-617
    • Ver Hoeve, J.N.1    Danilov, Y.P.2    Kim, C.B.3    Spear, P.D.4
  • 27
    • 0027369506 scopus 로고
    • Full-field electroretinograms during general anesthesia in normal children compared to examination with topical anesthesia
    • S. Andreasson, K. Tornqvist, and B. Ehinger Full-field electroretinograms during general anesthesia in normal children compared to examination with topical anesthesia Acta Ophthalmol. (Copenh) 71 1993 491 495
    • (1993) Acta Ophthalmol. (Copenh) , vol.71 , pp. 491-495
    • Andreasson, S.1    Tornqvist, K.2    Ehinger, B.3
  • 28
    • 0034949863 scopus 로고    scopus 로고
    • Accumulation of free 3-hydroxy fatty acids in the culture media of fibroblasts from patients deficient in long-chain l-3-hydroxyacyl-CoA dehydrogenase: A useful diagnostic aid
    • P.M. Jones, M. Moffitt, D. Joseph, P.A. Harthcock, R.L. Boriack, J.A. Ibdah, A.W. Strauss, and M.J. Bennett Accumulation of free 3-hydroxy fatty acids in the culture media of fibroblasts from patients deficient in long-chain l-3-hydroxyacyl-CoA dehydrogenase: a useful diagnostic aid Clin. Chem. 47 2001 1190 1194
    • (2001) Clin. Chem. , vol.47 , pp. 1190-1194
    • Jones, P.M.1    Moffitt, M.2    Joseph, D.3    Harthcock, P.A.4    Boriack, R.L.5    Ibdah, J.A.6    Strauss, A.W.7    Bennett, M.J.8
  • 29
    • 0000172359 scopus 로고    scopus 로고
    • Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation
    • P.M. Jones, R. Quinn, P.V. Fennessey, S. Tjoa, S.I. Goodman, S. Fiore, A.B. Burlina, P. Rinaldo, R.L. Boriack, and M.J. Bennett Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation Clin. Chem. 46 2000 149 155
    • (2000) Clin. Chem. , vol.46 , pp. 149-155
    • Jones, P.M.1    Quinn, R.2    Fennessey, P.V.3    Tjoa, S.4    Goodman, S.I.5    Fiore, S.6    Burlina, A.B.7    Rinaldo, P.8    Boriack, R.L.9    Bennett, M.J.10
  • 31
    • 0022445141 scopus 로고
    • Biochemical and functional effects of prenatal and postnatal omega 3 fatty acid deficiency on retina and brain in rhesus monkeys
    • M. Neuringer, W.E. Connor, D.S. Lin, L. Barstad, and S. Luck Biochemical and functional effects of prenatal and postnatal omega 3 fatty acid deficiency on retina and brain in rhesus monkeys Proc. Natl. Acad. Sci. USA 83 1986 4021 4025
    • (1986) Proc. Natl. Acad. Sci. USA , vol.83 , pp. 4021-4025
    • Neuringer, M.1    Connor, W.E.2    Lin, D.S.3    Barstad, L.4    Luck, S.5
  • 32
    • 0021350358 scopus 로고
    • Dietary omega-3 fatty acid deficiency and visual loss in infant rhesus monkeys
    • M. Neuringer, W.E. Connor, C. Van Petten, and L. Barstad Dietary omega-3 fatty acid deficiency and visual loss in infant rhesus monkeys J. Clin. Invest. 73 1984 272 276
    • (1984) J. Clin. Invest. , vol.73 , pp. 272-276
    • Neuringer, M.1    Connor, W.E.2    Van Petten, C.3    Barstad, L.4
  • 34
    • 0034162869 scopus 로고    scopus 로고
    • Dietary essential fatty acids, long-chain polyunsaturated fatty acids, and visual resolution acuity in healthy fullterm infants: A systematic review
    • J.P. SanGiovanni, C.S. Berkey, J.T. Dwyer, and G.A. Colditz Dietary essential fatty acids, long-chain polyunsaturated fatty acids, and visual resolution acuity in healthy fullterm infants: a systematic review Early Hum. Dev. 57 2000 165 188
    • (2000) Early Hum. Dev. , vol.57 , pp. 165-188
    • Sangiovanni, J.P.1    Berkey, C.S.2    Dwyer, J.T.3    Colditz, G.A.4
  • 36
    • 0031839308 scopus 로고    scopus 로고
    • Effect of diet on the rate of depletion of n-3 fatty acids in the retina of the guinea pig
    • H.S. Weisinger, A.J. Vingrys, L. Abedin, and A.J. Sinclair Effect of diet on the rate of depletion of n-3 fatty acids in the retina of the guinea pig J. Lipid Res. 39 1998 1274 1279
    • (1998) J. Lipid Res. , vol.39 , pp. 1274-1279
    • Weisinger, H.S.1    Vingrys, A.J.2    Abedin, L.3    Sinclair, A.J.4
  • 37
    • 0036326098 scopus 로고    scopus 로고
    • N - 3 fatty acid deficiency alters recovery of the rod photoresponse in rhesus monkeys
    • B.G. Jeffrey, D.C. Mitchell, R.A. Gibson, and M. Neuringer n - 3 fatty acid deficiency alters recovery of the rod photoresponse in rhesus monkeys Invest. Ophthalmol. Vis. Sci. 43 2002 2806 2814
    • (2002) Invest. Ophthalmol. Vis. Sci. , vol.43 , pp. 2806-2814
    • Jeffrey, B.G.1    Mitchell, D.C.2    Gibson, R.A.3    Neuringer, M.4
  • 38
    • 0020655183 scopus 로고
    • Chemistry and metabolism of lipids in the vertebrate retina
    • S.J. Fliesler, and R.E. Anderson Chemistry and metabolism of lipids in the vertebrate retina Prog. Lipid Res. 22 1983 79 131
    • (1983) Prog. Lipid Res. , vol.22 , pp. 79-131
    • Fliesler, S.J.1    Anderson, R.E.2
  • 40
    • 0041629654 scopus 로고    scopus 로고
    • Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
    • A.M. Lund, M.A. Dixon, P. Vreken, J.V. Leonard, and A.A. Morris Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency J. Inherit. Metab. Dis. 26 2003 410 412
    • (2003) J. Inherit. Metab. Dis. , vol.26 , pp. 410-412
    • Lund, A.M.1    Dixon, M.A.2    Vreken, P.3    Leonard, J.V.4    Morris, A.A.5
  • 41
    • 0037696254 scopus 로고    scopus 로고
    • Clinical aspects of essential fatty acid metabolism: Jonathan Rhoads Lecture
    • B.R. Bistrian Clinical aspects of essential fatty acid metabolism: Jonathan Rhoads Lecture J. Parenter. Enteral Nutr. 27 2003 168 175
    • (2003) J. Parenter. Enteral Nutr. , vol.27 , pp. 168-175
    • Bistrian, B.R.1


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