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Arch Pathol Lab Med. 1997 Jul;121(7):730-4.

Clinical, biochemical, and morphologic investigations of a case of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

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  • 1Department of Pathology, University of Texas Southwestern Medical Center, Dallas 75235, USA.

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.

PMID:
9240910
[PubMed - indexed for MEDLINE]
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