Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings

European Journal of Pediatrics

Volumn 159, Issue 1-2, 2000, Pages 108-112

  Van Maldergem, L ^a   Fourneau, C ^a   Gillerot, Y ^a   Tuerlinckx, D ^b   Bachy, A ^b   Wanders, R J ^c   Vianey Saban, C ^d   Van Hoof, F ^e   Martin, J J ^f  

^a INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^b Clinique Notre Dame   (Belgium)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d HÔPITAL DEBROUSSE   (France)

^e UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^f UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

Fatty acid oxidation; Liver cirrhosis; Neuropathology; Peroxisome

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; LIVER ENZYME;

ARTICLE; CASE REPORT; CHILD; COMA; ENZYME DEFICIENCY; EPILEPTIC STATE; FAILURE TO THRIVE; FEMALE; HEART FAILURE; HEPATOMEGALY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; LIVER CIRRHOSIS; LIVER FAILURE; MALE; NEUROLOGIC DISEASE; ONSET AGE; PRIORITY JOURNAL; SEIZURE; SIBLING;

EID: 0033995193     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050022     Document Type: Article

References (31)

1. 1. Bertini E, Dionisi-Vici C, Garavaglia B, Burlina AB, Sabatelli M, Rimoldi M, Bartuli A, Sabetta G, DiDonato S (1992) Peripheral sensory motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Eur J Pediatr 151: 121-126
2. 2. Dionisi-Vici C, Burlina AB, Bertini E, Bachmann C, Mazziotta MR, Zacchello F, Sabetta G, Hale DE (1991) Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency. J Pediatr 118:744-746
3. 3. Duran M, Wanders RJ, de Jager JP, Dorland L, Bruinvis L, Ketting D, Ijlst L, van Sprang FJ (1991) 3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment. Eur J Pediatr 150:190-195
4. 4. Hale DE, Bennett MJ (1992) Fatty acid oxidation disorders: a new class of metabolic diseases. J Pediatr 121:1-11
5. 5. Hale DE, Thorpe C, Braat K, Wright JH, Roe CR, Coates PM, Hashimoto T, Glasgow AM (1990) The L-3-hydroxyacyl-CoA dehydrogenase deficiency. Prog Clin Biol Res 321:503-510
6. 6. Ibdah JA, Isaacs J, Treem W, Bennett M, Strauss AW (1996) The molecular basis of acute fatty liver of pregnancy associated with pediatric long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Hepatology 4:201 A
7. 7. Ijlst L, Wanders RJA, Ushikubo S, Kamijo T, Hashimoto T (1995) Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional protein. Biochim Biophys Acta 1215:347-350
8. 8. Ijlst L, Ruiter JPN, Hoovers JMN, Jakobs ME, Wanders RJA (1996) Common missense mutation G1528 C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Clin Invest 98:1028-1033
9. 9. Jackson S, Bartlett K, Land J, Moxon ER, Pollitt RJ, Leonard JV, Turnbull DM (1991) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Res 29:406-411
10. 10. Martin J-J (1995) Neuropathology of peroxisomal diseases. J Inherit Metab Dis 18 [Suppl] 1:19-33
11. 11.McCrae KR, Samuels P, Schreider AD (1992) Pregnancy associated thrombocytopenia: pathogenesis and management. Blood 80:2697-2714
12. 12. Moore R, Glasgow JF, Bingham MA, Dodge JA, Pollitt RJ, Olpin SE, Middleton B, Carpenter K (1993) Long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency diagnosis, plasma carnitine fractions and management in a further patient. Eur J Pediatr 152:433-436
13. 13. Pérez-Cerdà C, Merinero B, Jiménez A, Garcia MJ, Sanz P, Ijlst L, Wanders RJ, Ugarte M (1993) First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk. Prenatal Diagn 13:529-533
14. 14. 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 hypoglycemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation. J Inher Metab Dis 11 [Suppl 2]: 183-185
15. 15. Przyrembel H, Jakobs C, Ijlst L, de Klerk JBC, Wanders RJ (1991) Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Inher Metab Dis 14:674-680
16. 16. Ribes A, Riudor E, Navarro C, Boronat M, Marti M, Hale DE (1992) Fatal outcome in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Inher Metab Dis 15:278-279
17. 17. Riudor E, Ribes A, Borowat M, Sabadoc C, Dominguez C, Ballabriga A (1986) A new case of familial C6-C14 dicarboxylic aciduria with favourable evolution. J Inher Metab Dis 9 [Suppl 2]:297-299
18. 18. Rocchiccioli F, Wanders RJ, Aubourg P, Vianey-Liaud C, Ijlst L, Fabre M, Cartier N, Bougneres PF (1990) Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood. Pediatr Res 28:657-662
19. 19. Roe CR, Coates PM. Mitochondrial fatty acid oxidation disorders (1995) In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Diseases, 7th edn. McGraw-Hill, New York, pp 1501-1533
20. 20. Sewell AC, Bender SW, Wirth S, Munterfering H, Ijlst L, Wanders RJ (1994) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder. Eur J Pediatr 153:745-750
21. 21. Sims HF, Brackett JC, Powell CK, Treem WR, Hale DE, Bennett MJ, Gibson B, Shapiro S, Strauss AW (1995) 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 92:841-845
22. 22. Strauss W, Benett MJ, Rinaldo P, Sims HF, O'Brien LK, Zhao Y, Gibson B, Ibdah J (1999) Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications. Semin Perinatol 23:100-112
23. 23. Treem WR (1994) Inborn defects in mitochondrial fatty oxidation. In: Suchy F (ed) Liver Disease in Children. Mosby, New York, pp 822-829
24. 24. Tyni T, Palotie A, Viinikka L, Valanne L, Sala MK, von Döbeln U, Jackson S, Wanders R, Venizelos N, Pihko H (1997) Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528 C mutation: Clinical presentation of thirteen patients. J Pediatr 130:67-76
25. 25. Uchida Y, Izai K, Orii T, Hashimoto T (1992) Novel fatty acid β-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein. J Biol Chem 267:1034-1041
26. 26. Vianey-Saban C, Mousson B, Bertrand C, Stamm D, Dumoulin R, Zabot MT, Divry P, Floret D, Mathieu M (1993) Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia. Eur J Pediatr 152:334-338
27. 27. Wanders RJ, Duran M, Ijlst L, de Jager Jp, van Gennip AH, Jakobs C, Dorland L, van Sprang FJ (1989) Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase. Lancet ii:52-53
28. 28. Wanders RJ, Ijlst L (1992) Long-chain 3-hydroxyacyl-CoA dehydrogenase in leukocytes and chorionic villus fibroblasts: potential for pre and postnatal diagnosis. J Inher Metab Dis 15:356-358
29. 29. Wanders RJ, Ijlst L, van Gennip AH, Jakobs 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 β-oxidation. J Inher Metab Dis 13:311-314
30. 30. Wanders RJ, Ijlst L, Duran M, Jakobs C, de Klerk JB, Przyrembel H, Rocchiccioli F, Aubourg P (1991) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients. J Inherit Metab Dis 14:325-328
31. 31. Wilcken B, Leung KC, Hammond J, Kamath R, Leonard JV (1993) Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency. Lancet ii:407-408