title: Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency.
abstract: Here we report a 7-month-old girl with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency with hypoketotic hypoglycemia; the mother had a history of acute fatty liver in a previous pregnancy leading to fetal death at 34 weeks of gestation. The misense mutation 1528G > C was detected in both alleles in the proband and in one allele in both parents. We emphasize that screening for fatty acid oxidation disorders and specifically LCHAD deficiency should be performed in newborns from mothers with hepatic complications during pregnancy such as acute fatty liver of pregnancy or severe or recurrent HELLP syndrome.
authors.affiliation: Servicio de Pediatría, Complejo Hospitalario Universitario de Albacete, Universidad de Castilla La-Mancha, Albacete, Spain. cgutierrezj@telefonica.net
authors.forename: Carolina
authors.initials: C
authors.lastname: Gutiérrez Junquera
authors.forename: Elena
authors.initials: E
authors.lastname: Balmaseda
authors.forename: Esther
authors.initials: E
authors.lastname: Gil
authors.forename: Andrés
authors.initials: A
authors.lastname: Martínez
authors.forename: Moisés
authors.initials: M
authors.lastname: Sorli
authors.forename: Isabel
authors.initials: I
authors.lastname: Cuartero
authors.forename: Begoña
authors.initials: B
authors.lastname: Merinero
authors.forename: Magdalena
authors.initials: M
authors.lastname: Ugarte
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics*; D000208:Acute Disease; D000483:Alleles; D001803:Blood Transfusion; D009202:Cardiomyopathies / Q000000981:diagnostic imaging; D005234:Fatty Liver / Q000175:diagnosis*; D005260:Female; D015870:Gene Expression / Q000235:genetics; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D011247:Pregnancy; D011248:Pregnancy Complications; D014463:Ultrasonography
chemical_list: D015094:3-Hydroxyacyl CoA Dehydrogenases