Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: A cause of lethal myopathy and cardiomyopathy in early childhood

Pediatric Research

Volumn 28, Issue 6, 1990, Pages 657-662

  Rocchiccioli, Francis ^a   Wanders, Ronald J A ^b   Aubourg, Patrick ^a   Vianey Liaud, Christine ^c   Ijlst, Lodadwyk ^b   Fabre, Monique ^d   Cartier, Nathalie ^a   Bougneres, Pierre Francois ^a  

^a HÔPITAL SAINT VINCENT DE PAUL   (France)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c HÔPITAL DEBROUSSE   (France)

^d Department of Internal Medicine   (France)

Author keywords

[No Author keywords available]

Indexed keywords

LONG CHAIN 3 HYDROXYACYL COENZYME A DEHYDROGENASE; UNCLASSIFIED DRUG;

ARTICLE; CARDIOMYOPATHY; CASE REPORT; ENZYME DEFICIENCY; FATALITY; FEMALE; FIBROBLAST; HISTOLOGY; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; INFANT; MYOPATHY; PRIORITY JOURNAL;

CASE REPORT; FATTY ACID DESATURASES; FEMALE; HUMAN; HYPOGLYCEMIA; INFANT; LIPIDS; LIVER; MUSCLES; MUSCULAR DISEASES; MYOCARDIAL DISEASES;

EID: 0025242644     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1203/00006450-199012000-00023     Document Type: Article

References (27)

1. Vianey-Liaud C, Divry P, Gregersen N, Mathieu M 1987 The inborn errors of mitochondrial fatty acid oxidation. J Inner Metab Dis 10(suppl 1): 159-198
2. Roe CR, Coates PM 1989 Acyl-CoA dehydrogenases deficiencies. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic Basis of Inherited Disease. McGraw-Hill, New York, pp 889-914
3. Coates PM, Hale DE, Finocchiaro G, Tanaka K, Winter SC 1988 Genetic deficiency of short chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness. J Clin Invest 81:171-175
4. Bougneres PF, Rocchiccioli F, Kolvraa S, Hadchouel M, Lalau Keraly J, Chaussain JL, Wadman SK, Gregersen N 1985 Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with Reye-like syndrome. J Pediatr 106:918-921
5. Coates PM, Hale DE, Stanley CA, Corkey BE, Conner JA 1985 Genetic deficiency of medium-chain acyl CoA dehydrogenase: studies in cultured skin fibroblasts and peripheral mononuclear leukocytes. Pediatr Res 19:671-676
6. Treem WR, Witzleben CA, Piccoli DA, Stanley CA, Hale DE, Coates PM, Watkins JB 1986 Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome. Hepatology 6:1270-1278
7. Hale DE, Batshaw ML, Coates PM, Frerman FE, Goodman SI, Singh I, Stanley CA 1985 Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketonic hypoglycemia. Pediatr Res 19:666-671
8. Glasgow AM, Engel AG, Bier DM, Perry LW, Dickie M, Todaro J, Brown BI, Utter MF 1983 Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet. Pediatr Res 17:319-326
9. Bennett MJ, Gray RGF, Isherwood DM, Murphy N, Pollitt RJ 1985 The diagnosis and biochemical investigation of a patient with a short chain fatty oxidation defect. J Inherited Metab Dis 8(supd1 2): 135-136
10. Pollitt RJ, Losty H, Westwood A 1987 3-Hydroxydicarboxylic aciduria: a distinctive type of intermittent dicarboxylic aciduria of possible diagnostic significance. J Inherited Metab Dis 10(suppl 2):266-269
11. Riudor E, Ribes A, Boronat M, Sabado C, Dominguez C, Ballabriga A 1986 A new case of C6-C14 dicarboxylic aciduria with favourable evolution. J Inherited Metab Dis 9(suppl 2):297-299
12. Kelley RI, Morton DH 1988 3-Hydroxyoctanoic aciduria: identification of a new organic acid in the urine of a patient with non-ketotic hypoglycemia. Clin Chim Acta 175:19-26
13. Poll-The BT, Bonnefont JP, Ogier H, Charpentier C, Pelet A, Le Fur JM, Jakobs C, Kok RM, Duran M, Divry P, Scotto J, Saudubray JM 1988 Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-Ci4 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation? J Inherited Metab Dis 11 (suppl 2): 183-185
14. Bougneres PF, Lemmel C, Ferre P, Bier DM 1986 Ketone body transport in the human neonate and infants. J Clin Invest 77:42-48
15. Cederblat G, Harper P, Lindgren K 1986 Spectrophotometry of carnitine in biological fluids and tissues with a Cobas biocentrifugal analyzer. Clin Chem 32:342-346
16. Rocchiccioli F, Aubourg P, Bougneres PF 1986 Mediumand long-chain dicarboxylic aciduria in patients with Zellweger syndrome and neonatal adrenoleukodystrophy. Pediatr Res 20:62-66
17. Aubourg P, Robain O, Rocchiccioli F, Dancea S, Scotto J 1985 The cerebrohepato-renal (Zellweger) syndrome: lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in plasma. J Neurol Sci 69:9-25
18. Kelvraa S, Gregersen N, Christensen E, Hobolth N 1982 In vitro fibroblast studies in a patient with C6-Cio dicarboxylic aciduria: evidence for a defect in general acyl CoA dehydrogenase. Clin Chim Acta 126:53-67
19. Wanders RJA, Ijlst L, Van Gennip AH, Jakobs C, De Jager JP, Dorland L, Van Sprang FJ, Duran M 1990 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid /3-oxidation. J Inherited Metab Dis 13:311-314
20. Hale DE, Thorpe C, Braat K, Wright JH, Roe CR, Coates PM, Hashimoto T, Glasgow AM 1990 The L-3-hydroxyacyl-CoA dehydrogenase deficiency. In: Tanaka K., Coates PM (eds) Fatty Acid Oxidation, Clinical, Biochemical and Molecular Aspects. Alan R Liss, New York, pp 503-510
21. El-Fakhri M, Middleton B 1979 The existence of two different L-3-hydroxyacylcoenzyme A dehydrogenases in rat tissues. Biochem Soc Trans 7:392-393
22. Osumi T, Hashimoto T 1979 Occurrence of two 3-hydroxyacyl-CoA dehydrogenases in rat liver. Biochim Biophys Acta 574:258-267
23. Hryb DJ, Hogg JF 1979 Chain length specificities of peroxisomal and mitochondrial 3-oxidation in rat liver. Biochem Biophys Res Commun 87:1200-1206
24. Osumi T, Hashimoto T 1980 Purification and properties of mitochondrial and peroxisomal 3-hydroxyacyl-CoA dehydrogenase from rat liver. Arch Biochem Biophys 203:372-383
25. Waber LJ, Valle D, Neill C, Di Mauro S, Shug A 1982 Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport. J Pediatr 101:700-705
26. Bougneres PF, Saudubray JM, Marsac C, Bernard O, Odievre M, Girard J 1981 Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency. J Pediatr 98:742-746
27. Veerkamp JH, Moerkerk HTB 1986 Peroxisomal fatty acid oxydation in rat and human tissues. Effect of nutritional state, clofibrate treatment and postnatal development in the rat. Biochim Biophys Acta 875:301-310