CLINICAL, BIOCHEMICAL, AND MORPHOLOGIC INVESTIGATIONS OF A CASE OF LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY

Authors
AMIRKHAN RH TIMMONS CF BROWN KO WEINBERGER MJ BENNETT MJ
Citation
Rh. Amirkhan et al., CLINICAL, BIOCHEMICAL, AND MORPHOLOGIC INVESTIGATIONS OF A CASE OF LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY, Archives of pathology and laboratory medicine, 121(7), 1997, pp. 730-734
Citations number
26
Categorie Soggetti
Pathology,"Medical Laboratory Technology","Medicine, Research & Experimental
Journal title
Archives of pathology and laboratory medicine
ISSN journal
00039985 → ACNP
Volume
121
Issue
7
Year of publication
1997
Pages
730 - 734
Database
ISI
SICI code
0003-9985(1997)121:7<730:CBAMIO>2.0.ZU;2-D
Abstract
We report the premortem and postmortem morphologic and histologic feat ures and biochemical findings of a patient with long-chain 3-hydroxyac yl-CoA dehydrogenase (L-CHAD) deficiency and compare these with those described in previously reported cases of L-CHAD deficiency. in additi on to chronic nonketotic hypoglycemia, hypotonia, and liver failure, t his patient had chronic hemolytic anemia and delayed central nervous s ystem myelination. These features have not been previously documented in L-CHAD deficiency.