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Diagnoses were based on increased levels of long\u2010chain hydroxyacylcarnitines and deficiencies of 3\u2010hydroxyacyl\u2010CoA dehydrogenase (LCHAD) and 3\u2010ketoacyl\u2010CoA thiolase activity in fibroblasts. All affected infants lacked the common E474Q mutation associated with isolated LCHAD deficiency. This mutation is thought to be a predisposing factor for maternal hepatic disease in pregnancy. Our findings suggest that other defects in this enzyme complex might be responsible for maternal hepatic complications in pregnancy.<\/jats:p>","DOI":"10.1023\/a:1026712719416","type":"journal-article","created":{"date-parts":[[2003,11,6]],"date-time":"2003-11-06T18:09:07Z","timestamp":1068142147000},"page":"826-834","source":"Crossref","is-referenced-by-count":25,"title":["Trifunctional protein deficiency: Three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation"],"prefix":"10.1002","volume":"23","author":[{"given":"A.","family":"Chakrapani","sequence":"first","affiliation":[{"name":"Willink Biochemical Genetics Unit Royal Manchester Children's Hospital  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Olpin","sequence":"additional","affiliation":[{"name":"Neonatal Screening Laboratory Sheffield Children's Hospital  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Cleary","sequence":"additional","affiliation":[{"name":"Willink Biochemical Genetics Unit Royal Manchester Children's Hospital  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. 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