A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women

New England Journal of Medicine

Volumn 340, Issue 22, 1999, Pages 1723-1731

  Ibdah, Jamal A ^a   Bennett, Michael J ^b   Rinaldo, Piero ^c   Zhao, Yiwen ^a   Gibson, Beverly ^d   Sims, Harold F ^d   Strauss, Arnold W ^d,e  

^a WAKE FOREST SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c MAYO CLINIC   (United States)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e ST LOUIS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; ENZYME DEFECT; FATTY ACID SYNTHESIS; GENE AMPLIFICATION; GENOTYPE; HELLP SYNDROME; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; INFECTION RISK; LIPID PEROXIDATION; LIVER DISEASE; PREGNANCY COMPLICATION; PRIORITY JOURNAL;

3-HYDROXYACYL COA DEHYDROGENASES; ACUTE DISEASE; DNA MUTATIONAL ANALYSIS; FATTY ACIDS; FATTY LIVER; FEMALE; FETAL DISEASES; GENOTYPE; HELLP SYNDROME; HUMANS; INFANT; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MITOCHONDRIA; MULTIENZYME COMPLEXES; MUTATION; OXIDATION-REDUCTION; PREGNANCY; PREGNANCY COMPLICATIONS;

EID: 0033519714     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199906033402204     Document Type: Article

References (31)

1. Riely CA, Latham PS, Romero R, Duffy TP. Acute fatty liver of pregnancy: a reassessment based on observations in nine patients. Ann Intern Med 1987;106:703-6.
2. Knox TA, Olans LB. Liver disease in pregnancy. N Engl J Med 1996; 335:569-76.
3. Reyes H, Sandoval L, Wainstem A, et al. Acute fatty liver of pregnancy: a clinical study of 12 episodes in 11 patients. Gut 1994;35:101-6.
4. Usta IM, Barton JR, Amon EA, Gonzales A, Sibai BM. Acute fatty liver of pregnancy: an experience in the diagnosis and management of fourteen cases. Am J Obstet Gynecol 1994;171:1342-7.
5. Sibai BM, Ramadan MK, Usta I, Salama M, Mercer BM, Friedman SA. Maternal morbidity and mortality in 442 pregnancies with hemolysis, elevated liver enzymes, and low platelets. Am J Obstet Gynecol 1993;169: 1000-6.
6. Uchida Y, Izai K, Orii T, Hashimoto T. Novel fatty add β-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoylcoenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein. J Biol Chem 1992;267:1034-41.
7. Jackson S, Kler RS, Bartlett K, et al. Combined enzyme defect of mitochondrial fatty acid oxidation. J Clin Invest 1992;90:1219-25.
8. 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 U S A 1995; 92:841-5.
9. Ushikubo S, Aoyama T, Kamijo T, et al. Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha-and beta-subunits. Am J Hum Genet 1996;58:979-88.
10. IJlst L, Ruiter JPN, Hoovers JMN, Jakobs ME, Wanders RJA. Common missense mutation G152SC in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Clin Invest 1996;98:1028-33.
11. Wanders RJA, Duran M, Ijlst L, et al. Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase. Lancet 1989;2:52-3.
12. Rinaldo P, Raymond K, al-Odaib A, Bennett MJ. Clinical and biochemical features of fatty acid oxidation disorders. Curr Opin Pediatr 1998; 10:615-21.
13. Schoeman MN, Batey RG, Wilcken B. Recurrent acute fatty liver of pregnancy associated with a fatty-acid oxidation defect in the offspring. Gastroenterology 1991;100:544-8.
14. Jackson S, Bartlett K, Land J, et al. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Res 1991;29:406-11.
15. Wilcken B, Leung K-C, Hammond J, Kamath R, Leonard JV. Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency. Lancet 1993;341:407-8.
16. Tyni T, Ekholm E, Pihko H. Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Am J Obstet Gynecol 1998;178:603-8.
17. Isaacs JD, Sims HF, Powell CK, et al. Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele. Pediatr Res 1996;40:393-8.
18. Treem W, Shoup ME, Hale DE, et al. Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Am J Gastroenterol 1996;91:2293-300.
19. Brackett JC, Sims HF, Rinaldo P, et al. Two a subunit donor splice ate mutations cause human trifunctional protein deficiency. J Clin Invest 1995;95:2076-82.
20. Tyni T, Palotie A, Viinikka L, et al. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation in 13 patients. J Pediatr 1997;130:67-76.
21. Mansouri A, Fromenty B, Durand F, Degott C, Bernuau J, Pessayre D. Assessment of the prevalence of genetic metabolic defects in acute fatty liver of pregnancy. J Hepatol 1996;25:781.
22. Bennett MJ. The laboratory diagnosis of inborn errors of mitochondrial fatty acid oxidation. Ann Clin Biochem 1990;27:519-31.
23. Wanders RJA, IJlst L, Poggi F, et al. Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation. Biochem Biophys Res Commun 1992;188:1139-45.
24. Ausubel FM, Kingston RE, Moore DD, Seidman JG, Smith JA, Struhl K. Current protocols in molecular biology. New York: John Wiley, 1987: 1.7.1-1.7.15.
25. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci U S A 1989;86:2766-70.
26. 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 alpha subunit of the mitochondrial trifunctional protein. Biochim Biophys Acta 1994;1215: 347-50.
27. Tein I, Donner EJ, Hale DE, Murphy EG. Clinical and neurophysiologic response of myopathy and neuropathy in long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency to oral prednisone. Pediatr Neurol 1995;12: 68-76.
28. Vici CD, Burlina AB, Bertini E, et al. Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. J Pediatr 1991;118:744-6.
29. Tyni T, Kivelä T, Lappi M, Summanen P, Nikoskelainen E, Pihko H. Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy. Ophthalmology 1998;105:810-24.
30. Grimbert S, Fromenty B, Fisch C, et al. Decreased mitochondrial oxidation of fatty acids in pregnant mice: possible relevance to development of acute fatty liver of pregnancy. Hepatology 1993;17:628-37.
31. Perez-Cerda C, Merinero B, Jimenez A, et al. First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk. Prenat Diagn 1993;13:529-33.