title: [LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency as a cause of sudden death of a three months old infant].
abstract: LCHAD deficiency is a rare, autosomal recessive congenial defect of fatty acid oxidation. In this disorder high mortality is observed. In some cases patients die during the first episode of this disease, without the diagnosis of LCHAD. We report the case of a three months old boy, whose sudden death was the result of LCHAD deficiency.
authors.affiliation: Klinika Pediatrii, Hematologii, Onkologii i Endokrynologii, 80-952 Gdańsk ul. Debinki 7, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Neuman-Łaniec
authors.forename: Jolanta
authors.initials: J
authors.lastname: Wierzba
authors.forename: Ninela
authors.initials: N
authors.lastname: Irga
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Zaborowska-Sołtys
authors.forename: Anna
authors.initials: A
authors.lastname: Balcerska
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D003645:Death, Sudden / Q000209:etiology*; D003937:Diagnosis, Differential; D005234:Fatty Liver / Q000378:metabolism; D006801:Humans; D007223:Infant; D050356:Lipid Metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis* / Q000201:enzymology; D008297:Male; D020125:Mutation, Missense
chemical_list: D015094:3-Hydroxyacyl CoA Dehydrogenases