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 journalArticle

12 Citations (Scopus)

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

Fingerprint

3-Hydroxyacyl-CoA Dehydrogenase
Coenzyme A
Oxidoreductases
Muscle Hypotonia
Hemolytic Anemia
Liver Failure
Hypoglycemia
Central Nervous System

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology

Cite this

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 journalArticle

@article{522e7af3d5204aa18e5aa949734ae0d2,
title = "Clinical, biochemical, and morphologic investigations of a case of long- chain 3-hydroxyacyi-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.",
author = "Amirkhan, {Robin H.} and Timmons, {Charles F.} and Brown, {Kendall O.} and Weinberger, {Michael J.} and Bennett, {Michael J.}",
year = "1997",
language = "English (US)",
volume = "121",
pages = "730--734",
journal = "Archives of Pathology and Laboratory Medicine",
issn = "0003-9985",
publisher = "College of American Pathologists",
number = "7",

}

TY - JOUR

T1 - Clinical, biochemical, and morphologic investigations of a case of long- chain 3-hydroxyacyi-CoA dehydrogenase deficiency

AU - Amirkhan, Robin H.

AU - Timmons, Charles F.

AU - Brown, Kendall O.

AU - Weinberger, Michael J.

AU - Bennett, Michael J.

PY - 1997

Y1 - 1997

N2 - 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.

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.

UR - http://www.scopus.com/inward/record.url?scp=0030789710&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030789710&partnerID=8YFLogxK

M3 - Article

C2 - 9240910

AN - SCOPUS:0030789710

VL - 121

SP - 730

EP - 734

JO - Archives of Pathology and Laboratory Medicine

JF - Archives of Pathology and Laboratory Medicine

SN - 0003-9985

IS - 7

ER -