title: Clinical, biochemical, and morphologic investigations of a case of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
abstract: We report the premortem and postmortem morphologic and histologic features and biochemical findings of a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase (L-CHAD) deficiency and compare these with those described in previously reported cases of L-CHAD deficiency. In addition to chronic nonketotic hypoglycemia, hypotonia, and liver failure, this patient had chronic hemolytic anemia and delayed central nervous system myelination. These features have not been previously documented in L-CHAD deficiency.
authors.affiliation: Department of Pathology, University of Texas Southwestern Medical Center, Dallas 75235, USA.
authors.forename: R H
authors.initials: RH
authors.lastname: Amirkhan
authors.forename: C F
authors.initials: CF
authors.lastname: Timmons
authors.forename: K O
authors.initials: KO
authors.lastname: Brown
authors.forename: M J
authors.initials: MJ
authors.lastname: Weinberger
authors.forename: M J
authors.initials: MJ
authors.lastname: Bennett
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D000743:Anemia, Hemolytic / Q000209:etiology; D005260:Female; D006801:Humans; D007003:Hypoglycemia / Q000378:metabolism / Q000473:pathology; D007223:Infant; D008099:Liver / Q000648:ultrastructure; D017093:Liver Failure / Q000209:etiology / Q000473:pathology; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase
chemical_list: D015094:3-Hydroxyacyl CoA Dehydrogenases; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase