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

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 journal › Article › peer-review

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 language	English (US)
Pages (from-to)	730-734
Number of pages	5
Journal	Archives of Pathology and Laboratory Medicine
Volume	121
Issue number	7
State	Published - 1997

ASJC Scopus subject areas

Pathology and Forensic Medicine
Medical Laboratory Technology

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Clinical, biochemical, and morphologic investigations of a case of long- chain 3-hydroxyacyi-CoA dehydrogenase deficiency. / Amirkhan, Robin H.; Timmons, Charles F.; Brown, Kendall O.; Weinberger, Michael J.; Bennett, Michael J.

In: Archives of Pathology and Laboratory Medicine, Vol. 121, No. 7, 1997, p. 730-734.

Research output: Contribution to journal › Article › peer-review

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AB - 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.

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

Abstract

ASJC Scopus subject areas

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