Document Detail


Clinical, biochemical, and morphologic investigations of a case of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
MedLine Citation:
PMID:  9240910     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
R H Amirkhan; C F Timmons; K O Brown; M J Weinberger; M J Bennett
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Archives of pathology & laboratory medicine     Volume:  121     ISSN:  0003-9985     ISO Abbreviation:  Arch. Pathol. Lab. Med.     Publication Date:  1997 Jul 
Date Detail:
Created Date:  1997-08-25     Completed Date:  1997-08-25     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7607091     Medline TA:  Arch Pathol Lab Med     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  730-4     Citation Subset:  AIM; IM    
Affiliation:
Department of Pathology, University of Texas Southwestern Medical Center, Dallas 75235, USA.
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MeSH Terms
Descriptor/Qualifier:
3-Hydroxyacyl CoA Dehydrogenases / deficiency*
Anemia, Hemolytic / etiology
Female
Humans
Hypoglycemia / metabolism,  pathology
Infant
Liver / ultrastructure
Liver Failure / etiology,  pathology
Chemical
Reg. No./Substance:
EC 1.1.1.211/long-chain 3-hydroxyacyl CoA dehydrogenase; EC 1.1.1.35/3-Hydroxyacyl CoA Dehydrogenases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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