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.

journal_name

Arch Pathol Lab Med

authors

Amirkhan RH,Timmons CF,Brown KO,Weinberger MJ,Bennett MJ

subject

Has Abstract

pub_date

1997-07-01 00:00:00

pages

730-4

issue

7

eissn

0003-9985

issn

1543-2165

journal_volume

121

pub_type

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