Document Detail

Lipoamide dehydrogenase deficiency: a newly discovered cause of acute hepatitis in adults.
MedLine Citation:
PMID:  9764998     Owner:  NLM     Status:  MEDLINE    
Lipoamide dehydrogenase deficiency is a rare disease, manifested in early childhood by lactic acidemia, progressive neurological damage and death in most cases. We report a case of lipoamide dehydrogenase deficiency in a 34-year-old Ashkenazi-Jewish woman. The deficiency manifested as acute hepatitis without cognitive impairment or acidosis. The patient's brother also had lipoamide dehydrogenase deficiency, diagnosed at the age of 20, and manifested as hepatocellular damage, lactic acidemia and myoglobinuria. We assume that the trigger for this hepatocellular damage was prolonged fasting, and that otherwise the patient might have gone undiagnosed. Other cases in Ashkenazi Jews of mild lipoamide dehydrogenase deficiency with hepatocellular injury but without central nervous system involvement are reviewed.
N Barak; D Huminer; T Segal; Z Ben Ari; J Halevy; R Tur-Kaspa
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of hepatology     Volume:  29     ISSN:  0168-8278     ISO Abbreviation:  J. Hepatol.     Publication Date:  1998 Sep 
Date Detail:
Created Date:  1998-12-17     Completed Date:  1998-12-17     Revised Date:  2011-07-07    
Medline Journal Info:
Nlm Unique ID:  8503886     Medline TA:  J Hepatol     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  482-4     Citation Subset:  IM    
Department of Medicine D, Belinson Hospital, Rabin Medical Center, Petah-Tikva, Jerusalem, Israel.
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MeSH Terms
Acute Disease
Dihydrolipoamide Dehydrogenase / deficiency*
Hepatitis / enzymology*
Treatment Outcome
Reg. No./Substance:
EC Dehydrogenase

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