Ontology highlight
ABSTRACT:
SUBMITTER: Morris AA
PROVIDER: S-EPMC3575043 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
JIMD reports 20120321
Liver dysfunction usually accompanies metabolic decompensation in fatty acid oxidation disorders, including carnitine palmitoyltransferase (CPT) Ia deficiency. Typically, the liver is enlarged with raised plasma transaminase activities and steatosis on histological examination. In contrast, cholestatic jaundice is rare, having only been reported in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. We report a 3-year-old boy with CPT Ia deficiency who developed hepatomegaly and chole ...[more]