title: Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation.
abstract: We report five families with trifunctional protein deficiency in which, during pregnancy, three mothers experienced significant hepatic disease when carrying an affected fetus. Diagnoses were based on increased levels of long-chain hydroxyacylcarnitines and deficiencies of 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and 3-ketoacyl-CoA 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.
authors.affiliation: Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, UK
authors.forename: A
authors.initials: A
authors.lastname: Chakrapani
authors.forename: S
authors.initials: S
authors.lastname: Olpin
authors.forename: M
authors.initials: M
authors.lastname: Cleary
authors.forename: J H
authors.initials: JH
authors.lastname: Walter
authors.forename: J E
authors.initials: JE
authors.lastname: Wraith
authors.forename: G T
authors.initials: GT
authors.lastname: Besley
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000235:genetics*; D017809:Fatal Outcome; D005234:Fatty Liver / Q000201:enzymology* / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000201:enzymology / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D063991:Mitochondrial Trifunctional Protein; D009097:Multienzyme Complexes / Q000172:deficiency* / Q000235:genetics; D017354:Point Mutation; D011247:Pregnancy; D011248:Pregnancy Complications / Q000201:enzymology*
chemical_list: D009097:Multienzyme Complexes; D015094:3-Hydroxyacyl CoA Dehydrogenases; D063991:Mitochondrial Trifunctional Protein