Clinical, biochemical, and morphologic investigations of a case of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 9240910.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- 3-Hydroxyacyl CoA Dehydrogenases