메뉴 건너뛰기




Volumn 14, Issue 3, 1996, Pages 236-243

The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; LONG CHAIN FATTY ACID;

EID: 0029933864     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/0887-8994(96)00021-5     Document Type: Article
Times cited : (51)

References (44)
  • 1
    • 0000576457 scopus 로고
    • Mitochondrial fatty acid oxidation disorders
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
    • Roe CR, Coates PM. Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease. 7th ed. Vol 1. New York: McGraw-Hill, 1995:1501-53.
    • (1995) The Metabolic and Molecular Basis of Inherited Disease. 7th Ed. , vol.1 , pp. 1501-1553
    • Roe, C.R.1    Coates, P.M.2
  • 2
    • 85030200908 scopus 로고    scopus 로고
    • Beta-oxidation of fatty acids in mitochondria, peroxisomes and bacteria. A century of continued progress
    • in press
    • Kunaw WH, Dommes V, Schulz H. Beta-oxidation of fatty acids in mitochondria, peroxisomes and bacteria. A century of continued progress. Lipid Res (in press).
    • Lipid Res
    • Kunaw, W.H.1    Dommes, V.2    Schulz, H.3
  • 3
    • 0026518372 scopus 로고
    • Novel fatty acid beta-oxidation enzymes in rat liver mitochondria, I. Purification and properties of very-long-chain acyl-coenzymes A dehydrogenase
    • Izai K, Uchida Y, Orii T, Yamamoto S, Hashimoto T. Novel fatty acid beta-oxidation enzymes in rat liver mitochondria, I. Purification and properties of very-long-chain acyl-coenzymes A dehydrogenase. J Biol Chem 1992;267:1027-33.
    • (1992) J Biol Chem , vol.267 , pp. 1027-1033
    • Izai, K.1    Uchida, Y.2    Orii, T.3    Yamamoto, S.4    Hashimoto, T.5
  • 4
    • 0026515859 scopus 로고
    • Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl CoA hydratase-3-hydroxyacyl-CoA dehydrogenase-3-ketoacyl-CoA thiolase trifunctional protein
    • Uchida Y, Izai K, Orii T, Hashimoto T. Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl CoA hydratase-3-hydroxyacyl-CoA dehydrogenase-3-ketoacyl-CoA thiolase trifunctional protein. J Biol Chem 1992;267:1034-41.
    • (1992) J Biol Chem , vol.267 , pp. 1034-1041
    • Uchida, Y.1    Izai, K.2    Orii, T.3    Hashimoto, T.4
  • 5
    • 0342466476 scopus 로고
    • Disorders of fatty acid oxidation
    • Fernandes J, Saudubray JM, Tade K, eds. Berlin: Springer-Verlag
    • Stanley CA. Disorders of fatty acid oxidation. In: Fernandes J, Saudubray JM, Tade K, eds. Inborn metabolic diseases. Berlin: Springer-Verlag, 1990:395-410.
    • (1990) Inborn Metabolic Diseases , pp. 395-410
    • Stanley, C.A.1
  • 6
    • 0026718314 scopus 로고
    • Fatty acid oxidation disorders: A new class of metabolic disease
    • Hale DE, Bennett MJ. Fatty acid oxidation disorders: A new class of metabolic disease. J Pediatr 1992;121:1-11.
    • (1992) J Pediatr , vol.121 , pp. 1-11
    • Hale, D.E.1    Bennett, M.J.2
  • 8
    • 0024353075 scopus 로고
    • Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase
    • Wanders RJA, Duran M, Ijlst L, et al. Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase. Lancet 1989;1:52-3.
    • (1989) Lancet , vol.1 , pp. 52-53
    • Wanders, R.J.A.1    Duran, M.2    Ijlst, L.3
  • 11
    • 0020540868 scopus 로고
    • Hypoglucemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium-chain triglyceride diet
    • Glasgow AM, Engel AG, Bier DM, et al. Hypoglucemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium-chain triglyceride diet. Pediatr Res 1983;17:319-26.
    • (1983) Pediatr Res , vol.17 , pp. 319-326
    • Glasgow, A.M.1    Engel, A.G.2    Bier, D.M.3
  • 12
    • 0002170341 scopus 로고
    • Carnitine deficiency syndromes and lipid storage myopathy
    • Engel AG, Banker BQ, eds. New York: McGraw-Hill
    • Engel AG. Carnitine deficiency syndromes and lipid storage myopathy. In: Engel AG, Banker BQ, eds. Myology: Basic and clinical. New York: McGraw-Hill, 1986:1663-96.
    • (1986) Myology: Basic and Clinical , pp. 1663-1696
    • Engel, A.G.1
  • 14
    • 0023778211 scopus 로고
    • Familial hypoketotic hypoglucaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation
    • Poll-The BT, Bonnefont JP, Ogier H, et al. Familial hypoketotic hypoglucaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation. J Inherited Metab Dis 1986;11:183-5.
    • (1986) J Inherited Metab Dis , vol.11 , pp. 183-185
    • Poll-The, B.T.1    Bonnefont, J.P.2    Ogier, H.3
  • 15
    • 0026725616 scopus 로고
    • Long-chain 3-hydroxyacyl-CoA dehydrogenase in leukocytes and chorionic villus fibroblasts: Potential for pre- and postnatal diagnosis
    • Wanders RJA, Ijlst L. Long-chain 3-hydroxyacyl-CoA dehydrogenase in leukocytes and chorionic villus fibroblasts: Potential for pre- and postnatal diagnosis. J Inherited Metab Dis 1992;15:356-8.
    • (1992) J Inherited Metab Dis , vol.15 , pp. 356-358
    • Wanders, R.J.A.1    Ijlst, L.2
  • 16
    • 0023890454 scopus 로고
    • 3-Hydroxyoctanoic aciduria: Identification of a new organic acid in the urine of a patient with non-ketotic hypoglycemia
    • Kelley RI, Morton DH. 3-Hydroxyoctanoic aciduria: Identification of a new organic acid in the urine of a patient with non-ketotic hypoglycemia. Clin Chim Acta 1988;175:19-26.
    • (1988) Clin Chim Acta , vol.175 , pp. 19-26
    • Kelley, R.I.1    Morton, D.H.2
  • 17
    • 0013586678 scopus 로고
    • 3-Hydroxydicarboxylic aciduria: A distinctive type of intermittent dicarboxylic aciduria of possible diagnostic significance
    • Pollit RJ, Losty H, Westwood A. 3-Hydroxydicarboxylic aciduria: A distinctive type of intermittent dicarboxylic aciduria of possible diagnostic significance. J Inherited Metab Dis 1989;10:266-9.
    • (1989) J Inherited Metab Dis , vol.10 , pp. 266-269
    • Pollit, R.J.1    Losty, H.2    Westwood, A.3
  • 18
    • 0025138203 scopus 로고
    • Clinical and biochemical presentations in 20 cases of hydroxydicarboxylic aciduria
    • Tanaka K, Coates PM, eds. New York: Alan R Liss
    • Pollit RJ. Clinical and biochemical presentations in 20 cases of hydroxydicarboxylic aciduria. In: Tanaka K, Coates PM, eds. Fatty acid oxidation: Clinical, biochemical, and molecular aspects. New York: Alan R Liss, 1990:495-502.
    • (1990) Fatty Acid Oxidation: Clinical, Biochemical, and Molecular Aspects , pp. 495-502
    • Pollit, R.J.1
  • 19
    • 0025001905 scopus 로고
    • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Identification of a new inborn error of mitochondrial fatty acid beta-oxidation
    • Wanders RJA, Ijlst L, Gennip AH, et al. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Identification of a new inborn error of mitochondrial fatty acid beta-oxidation. J Inherited Metab Dis 1990;13:311-4.
    • (1990) J Inherited Metab Dis , vol.13 , pp. 311-314
    • Wanders, R.J.A.1    Ijlst, L.2    Gennip, A.H.3
  • 20
    • 0026023968 scopus 로고
    • 3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with sudden infant death: Protective effect of medium-chain triglyceride treatment
    • Duran M, Wanders RJA, Jager JP, et al. 3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with sudden infant death: Protective effect of medium-chain triglyceride treatment. Eur J Pediatr 1991;150:190-5.
    • (1991) Eur J Pediatr , vol.150 , pp. 190-195
    • Duran, M.1    Wanders, R.J.A.2    Jager, J.P.3
  • 21
    • 0025268169 scopus 로고
    • 3-Hydroxydicarboxylic aciduria, a fatty acid oxidation defect with severe prognosis
    • Hangenfeldt L, Dobeln U, Holme E, et al. 3-Hydroxydicarboxylic aciduria, a fatty acid oxidation defect with severe prognosis. J Pediatr 1990;116:388-9.
    • (1990) J Pediatr , vol.116 , pp. 388-389
    • Hangenfeldt, L.1    Dobeln, U.2    Holme, E.3
  • 22
    • 0028466217 scopus 로고
    • Beta oxidation enzymes in fibroblasts from patients with 3-hydroxyacyl-CoA dehydrogenase deficiency
    • Venizelos N, Ijlst L, Wanders RJA, Hangenfeldt L. Beta oxidation enzymes in fibroblasts from patients with 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Res 1994;36:111-4.
    • (1994) Pediatr Res , vol.36 , pp. 111-114
    • Venizelos, N.1    Ijlst, L.2    Wanders, R.J.A.3    Hangenfeldt, L.4
  • 23
    • 0025242644 scopus 로고
    • Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: A cause of lethal myopathy and cardiomyopathy in early childhood
    • Rocchiccioli F, Wanders RJA, Aubourg P, et al. Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: A cause of lethal myopathy and cardiomyopathy in early childhood. Pediatr Res 1990;28:657-62.
    • (1990) Pediatr Res , vol.28 , pp. 657-662
    • Rocchiccioli, F.1    Wanders, R.J.A.2    Aubourg, P.3
  • 24
    • 0025828169 scopus 로고
    • Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
    • Dionisi-Vici C, Burlina AB, Bertini E, et al. Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Pediatr 1991;118:744-6.
    • (1991) J Pediatr , vol.118 , pp. 744-746
    • Dionisi-Vici, C.1    Burlina, A.B.2    Bertini, E.3
  • 26
    • 0025868680 scopus 로고
    • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
    • Jackson S, Barlett K, Land J, et al. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Res 1991;29:406-11.
    • (1991) Pediatr Res , vol.29 , pp. 406-411
    • Jackson, S.1    Barlett, K.2    Land, J.3
  • 27
    • 0026565361 scopus 로고
    • Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
    • Bertini E, Dionisi-Vici C, Garavaglia B, et al. Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Eur J Pediatr 1992;151:121-6.
    • (1992) Eur J Pediatr , vol.151 , pp. 121-126
    • Bertini, E.1    Dionisi-Vici, C.2    Garavaglia, B.3
  • 28
    • 0027217397 scopus 로고
    • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency diagnosis, plasma carnitine fractions and management in a further patient
    • Moore R, Glasgow JFT, Bingham MA, et al. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency diagnosis, plasma carnitine fractions and management in a further patient. Eur J Pediatr 1993;152: 433-6.
    • (1993) Eur J Pediatr , vol.152 , pp. 433-436
    • Moore, R.1    Glasgow, J.F.T.2    Bingham, M.A.3
  • 30
    • 0028013251 scopus 로고
    • Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
    • Treem WR, Rinaldo P, Hale DE, et al. Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Hepatology 1994;19:339-45.
    • (1994) Hepatology , vol.19 , pp. 339-345
    • Treem, W.R.1    Rinaldo, P.2    Hale, D.E.3
  • 31
    • 0028955733 scopus 로고
    • Clinical and neurophysiologic response of myopathy and neuropathy in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency to oral prednisone
    • Tein I, Donner EJ, Hale DE, Murphy EG. Clinical and neurophysiologic response of myopathy and neuropathy in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency to oral prednisone. Pediatr Neurol 1995;12:68-76.
    • (1995) Pediatr Neurol , vol.12 , pp. 68-76
    • Tein, I.1    Donner, E.J.2    Hale, D.E.3    Murphy, E.G.4
  • 32
    • 0020974404 scopus 로고
    • An X-linked mitochondrial disease affecting cardiac muscle, and neutrophil leukocytes
    • Barth PG, Scholte HR, Berden JA, et al. An X-linked mitochondrial disease affecting cardiac muscle, and neutrophil leukocytes. J Neurol Sci 1983;62:327-55.
    • (1983) J Neurol Sci , vol.62 , pp. 327-355
    • Barth, P.G.1    Scholte, H.R.2    Berden, J.A.3
  • 33
    • 0026458561 scopus 로고
    • Trifunctional protein deficiency: A new disorder of mitochondrial fatty acid beta-oxidation
    • Wanders RJA, Ijlst L, Poggi F, et al. Trifunctional protein deficiency: A new disorder of mitochondrial fatty acid beta-oxidation. Biochem Biophys Res Commun 1992;188:1139-45.
    • (1992) Biochem Biophys Res Commun , vol.188 , pp. 1139-1145
    • Wanders, R.J.A.1    Ijlst, L.2    Poggi, F.3
  • 34
    • 0028597508 scopus 로고
    • Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of the major disease-causing mutation in the alfa subunit of the mitochondrial trifunctional protein
    • Ijlst L, Wanders RJA, Ushikubo S, Kamijo T, Hashimoto T. Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of the major disease-causing mutation in the alfa subunit of the mitochondrial trifunctional protein. Biochim Biophys Acta 1994;1215:347-50.
    • (1994) Biochim Biophys Acta , vol.1215 , pp. 347-350
    • Ijlst, L.1    Wanders, R.J.A.2    Ushikubo, S.3    Kamijo, T.4    Hashimoto, T.5
  • 35
    • 0023948588 scopus 로고
    • Investigation of inborn errors of metabolism in unexpected infant deaths
    • Emery JL, Howat AJ, Variend S, Vawter GF. Investigation of inborn errors of metabolism in unexpected infant deaths. Lancet 1988;i: 29-31.
    • (1988) Lancet , vol.1 , pp. 29-31
    • Emery, J.L.1    Howat, A.J.2    Variend, S.3    Vawter, G.F.4
  • 36
    • 0027409820 scopus 로고
    • Pregnancy and fetal long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
    • Wilcken B, Leung K, Hammond J, Kamath R, Leonard JV. Pregnancy and fetal long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Lancet 1993;341:407-8.
    • (1993) Lancet , vol.341 , pp. 407-408
    • Wilcken, B.1    Leung, K.2    Hammond, J.3    Kamath, R.4    Leonard, J.V.5
  • 37
    • 0028888960 scopus 로고
    • The molecular basis of pediatric long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy
    • Sims HF, Brackett JC, Powell CK, et al. The molecular basis of pediatric long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. Proc Natl Acad Sci USA 1995;92:841-5.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 841-845
    • Sims, H.F.1    Brackett, J.C.2    Powell, C.K.3
  • 38
    • 0002849934 scopus 로고
    • Pathologic findings and putative mechanism of retinitis pigmentosa
    • Heckenlively JR, ed. Philadelphia: Lippincott
    • Marshall J, Heckenlively JR. Pathologic findings and putative mechanism of retinitis pigmentosa. In: Heckenlively JR, ed. Retinitis pigmentosa. Philadelphia: Lippincott, 1988:37-67.
    • (1988) Retinitis Pigmentosa , pp. 37-67
    • Marshall, J.1    Heckenlively, J.R.2
  • 39
    • 0024551414 scopus 로고
    • Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation
    • Corr PB, Creer MH, Yamada KA, Saffitz JE, Sobel BE. Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation. J Clin Invest 1989;83:927-36.
    • (1989) J Clin Invest , vol.83 , pp. 927-936
    • Corr, P.B.1    Creer, M.H.2    Yamada, K.A.3    Saffitz, J.E.4    Sobel, B.E.5
  • 40
    • 0028136452 scopus 로고
    • Long-chain 3-hydroxyacyl-CoA dehydrogenase (L-CHAD) deficiency in a patient with Bannayan-Riley-Ruvalcaba syndrome
    • Fryburg JS, Pelegano JP, Bennett MJ, Bebbin EM. Long-chain 3-hydroxyacyl-CoA dehydrogenase (L-CHAD) deficiency in a patient with Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet 1994;52: 97-102.
    • (1994) Am J Med Genet , vol.52 , pp. 97-102
    • Fryburg, J.S.1    Pelegano, J.P.2    Bennett, M.J.3    Bebbin, E.M.4
  • 41
    • 0019195703 scopus 로고
    • Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia
    • Ruvalcaba RHA, Myhre S, Smith DW. Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia. Clin Genet 1980;18:413-6.
    • (1980) Clin Genet , vol.18 , pp. 413-416
    • Ruvalcaba, R.H.A.1    Myhre, S.2    Smith, D.W.3
  • 42
    • 0027204946 scopus 로고
    • Dominantly inherited megalencephaly, muscle weakness and myoliposis: A carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome
    • Berkley R, Budden SS, Buist NRM. Dominantly inherited megalencephaly, muscle weakness and myoliposis: A carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome. J Pediatr 1993;123:70-5.
    • (1993) J Pediatr , vol.123 , pp. 70-75
    • Berkley, R.1    Budden, S.S.2    Buist, N.R.M.3
  • 44
    • 0026488067 scopus 로고
    • Combined enzyme defect of mitochondrial fatty acid oxidation
    • Jackson S, Kler RS, Barlett K, et al. Combined enzyme defect of mitochondrial fatty acid oxidation. J Clin Invest 1993;90:1219-25.
    • (1993) J Clin Invest , vol.90 , pp. 1219-1225
    • Jackson, S.1    Kler, R.S.2    Barlett, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.