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

Robin H. Amirkhan, Charles F. Timmons, Kendall O. Brown, Michael J. Weinberger, Michael J. Bennett

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)730-734
Number of pages5
JournalArchives of Pathology and Laboratory Medicine
Volume121
Issue number7
StatePublished - 1997

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology

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