[LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency as a cause of sudden death of a three months old infant].
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.
Neuman-Łaniec
Magdalena
M
Klinika Pediatrii, Hematologii, Onkologii i Endokrynologii, 80-952 Gdańsk ul. Debinki 7, Poland.
Wierzba
Jolanta
J
Irga
Ninela
N
Zaborowska-Sołtys
Małgorzata
M
Balcerska
Anna
A
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
D015094:3-Hydroxyacyl CoA Dehydrogenases