Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications

Seminars in Perinatology

Volumn 23, Issue 2, 1999, Pages 100-112

  Strauss, A W ^a   Bennett, M J ^a   Rinaldo, P ^a   Sims, H F ^a   O'Brien, L K ^a   Zhao, Y ^a   Gibson, B ^a   Ibdah, J ^a  

^a ST LOUIS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; LONG CHAIN FATTY ACID;

ARTICLE; DISEASE ASSOCIATION; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FATTY LIVER; FETOPLACENTAL UNIT; GENE MUTATION; GENETIC SCREENING; HELLP SYNDROME; HUMAN; MATERNAL DISEASE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL;

EID: 0032898281     PISSN: 01460005     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0146-0005(99)80044-5     Document Type: Article

References (55)

1. Wolf JL Liver Disease in pregnancy Med Clin North Am 80 1996 1167 1187
2. Riely CA Hepatic Disease in pregnancy Am J Med 96 1994 1A 18S
3. Pockros PJ Peters RL Reynolds TB Idiopathic fatty liver of pregnancy Medicine 63 1984 1 11
4. Sibai BM Ramadan MK Usta I Maternal morbidity and mortality in 442 pregnancies with HELLP syndrome Am J Obstet Gynecol 169 1993 1000 1006
5. Pereira SP O'Donohue J Wendon J Maternal and perinatal outcome in severe pregnancy-related liver disease Hepatology 26 1997 1258 1262
6. Minakami H Oka N Sato T Preeclampsia: A microvesicular fat disease of the liver? Am J Obstet Gynecol 159 1988 1042 1047
7. Roe CR Coates PM Mitochondrial fatty acid oxidation disorders Scriver CR Beaudet AL Sly WS The Metabolic and Molecular Bases of Inherited Disease 1995 McGraw-Hill New York, NY 1501 1533
8. Hale DE Bennett MJ Fatty acid oxidation disorders: A new class of metabolic diseases J Pediatr 121 1992 1 11
9. Eaton S Bartlett K Pourfarzam M Mammalian mitochondrial β-oxidation Biochem J 320 1996 345 357
10. Pollitt RJ Disorders of mitochondrial long-chain fatty acid oxidation J Inherit Metab Dis 18 1995 473 490
11. Boles RG Buck EA Blitzer MG Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life J Pediatr 132 1998 924 933
12. Strauss AW Powell CK Hale DE Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood Proc Natl Acad Sci U S A 92 1995 10496 10500
13. Kelly DP Whelan AJ Ogden ML Molecular characterization of inherited medium chain acyl-CoA dehydrogenase deficiency Proc Natl Acad Sci U S A 87 1990 9236 9240
14. Brackett JC Sims HF Steiner R A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death J Clin Invest 94 1994 1477 1483
15. Ijlst L Mandel H Oostheim Molecular basis of hepatic carnitine palmitoyltransferase deficiency J Clin Invest 102 1998 527 531
16. Leone TC Cresci S Carter ME The human medium-chain acyl-CoA dehydrogenase gene promoter consists of a complex arrangement of nuclear receptor response elements and Sp1 binding sites J Biol Chem 270 1995 16308 16314
17. Kamijo T Wanders RJA Saudubray J-M Mitochondrial trifunctional protein deficiency J Clin Invest 93 1994 1740 1747
18. Carpenter K Pollitt RJ Middleton B Human liver LCHAD is a multifunctional membrane-bound β-oxidation enzyme of mitochondria Biochem Biophys Res Comm 183 1992 443 448
19. Uchida Y Izai K Orii T Novel fatty acid β-oxidation enzymes in rat liver mitochondria J Biol Chem 267 1992 1034 1041
20. Bennett MJ The laboratory diagnosis of inborn errors of fatty acid oxidation Ann Clin Chem 27 1990 519 531
21. Rinaldo P O'Shea JJ Coates PM Medium chain acyl-CoA dehydrogenase deficiency: Diagnosis by stable isotope dilution measurement of urinary n-hexanoylglycine N Engl J Med 319 1988 1308 1313
22. Brackett JC Sims HF Rinaldo P Two α-subunit donor splice site mutations cause trifunctional protein deficiency J Clin Invest 95 1995 2076 2082
23. Riudor E Ribes A Borowat M A new case of familial dicarboxylic aciduria with favorable evolution J Inherit Metab Dis 9 1986 297 299
24. Pollitt RJ Losty H Westwood A 3-hydroxydicarboxylic aciduria J Inherit Metab Dis 10 1987 266 269
25. Kelley RI Morton DH 3-hydroxyoctanoic aciduria Clin Chim Acta 175 1988 19 26
26. Wanders RJA Ijlst L Van Gennip AH Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acid β-oxidation J Inherit Metab Dis 13 1990 311 314
27. Jackson S Bartlett K Land J Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Pediatr Res 29 1991 406 411
28. Wanders RJA Ijlst L Poggi F Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid oxidation Biochem Biophys Res Comm 188 1992 1139 1145
29. Jackson S Kler RS Bartlett K Combined enzyme defect of mitochondrial fatty acid oxidation J Clin Invest 90 1992 1219 1225
30. Kamijo T Aoyama T Komiyama A Structural analysis of cDNAs for subunits of human mitochondrial fatty acid β-oxidation trifunctional protein Biochem Biophys Res Comm 299 1994 818 825
31. Ijlst L Wanders RJA Ushikubo S Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Biochim Biophys Acta 1215 1994 347 350
32. Sims HF Brackett JC Powell CK The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with acute fatty liver of pregnancy Proc Natl Acad Sci U S A 92 1995 841 845
33. Isaacs JD Sims HF Powell CK Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency Pediatr Res 40 1996 393 398
34. Ijlst L Ruiter JPN Hoovers JMN Common missense mutation G1528 in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency J Clin Invest 98 1996 1028 1034
35. Tyni T Palotie A Viinikka L Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation J Pediatr 130 1997 67 76
36. Hagenfeldt L Venizelos N von Dobeln U Clincial and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency J Inherit Metab Dis 18 1995 245 248
37. Tyni T Ekholm E Pihko H Pregnancy complications are frequent in long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Am J Obstet Gynecol 178 1998 603 608
38. Ibdah JA, Bennett MJ, Rinaldo P, et al: A fetal fatty acid oxidation disorder causes maternal liver disease of pregnancy. N Engl J Med (in press)
39. Kobayashi A Jiang LL Hashimoto T Two mitochondrial 3-hydroxyacyl-CoA dehydrogenases in bovine liver J Biochem 119 1996 775 782
40. Aoufouchi S Yelamos J Milstein C Nonsense mutations inhibit RNA splicing in a cell-free system Cell 85 1996 415 422
41. Perlick HA Medghalchi SM Spencer FA Mammalian orthologues of yeast regulator of nonsense transcript stability Proc Natl Acad Sci U S A 93 1996 10928 10932
42. Ibdah JA Tein I Dionisi-Vici C Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation J Clin Invest 102 1998 1193 1199
43. Orii KE Aoyama T Wakui K Genomic and mutational analysis of the mitochondrial trifunctional protein β-subunit gene in patients with trifunctional protein deficiency Hum Mol Genet 6 1997 1215 1224
44. Ushikubo S Aoyama T Kamijo T Molecular characterization of mitochondrial trifunctional protein deficiency Am J Hum Genet 58 1997 979 988
45. Wilcken B Leung K-C Hammond J Pregnancy and fetal long-chain 3-hydroxyacyl-CoA deficiency Lancet 341 1993 407 408
46. Treem WR Rinaldo P Hale DE Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Hepatol 19 1994 339 345
47. Treem WR Shoup ME Hale DE Acute fatty liver of pregnancy, HELLP, and long chain 3-hydroxyacyl-CoA deficiency Am J Gastroenterol 91 1996 2293 2300
48. Weinstein L Syndrome of hemolysis, elevated liver enzymes, and low platelet counts Am J Obstet Gynecol 143 1982 159 167
49. Stander HF Cadden JF Acute yellow atrophy of the liver in pregnancy Am J Obstet Gynecol 28 1934 61 69
50. Sheehan HL The pathology of acute yellow atrophy and delayed chloroform poisoning J Obstet Gynecol Br Emp 47 1940 49 62
51. Reyes H Sandoval L Wainstein A Acute fatty liver of pregnancy Gut 35 1994 101 106
52. Schoeman MN Batey RG Wilcken B Recurrent acute fatty liver of pregnancy associated with a fatty-acid oxidation defect in the offspring Gastroenterology 100 1991 544 548
53. Mansouri A Fromenty B Durand F Assessment of the prevalence of genetic metabolic defects in acute fatty liver of pregnancy J Hepatol 25 1996 781
54. Grimbert S Fisch C Deschamps D Effects of female sex hormones on mitochondria Am J Physiol 268 1995 G107 G115
55. Grimbert S Fromenty B Fisch C Decreased mitochondrial oxidation of fatty acids in pregnant mice Hepatology 17 1993 628 637