| Lipoamide dehydrogenase deficiency: a newly discovered cause of acute hepatitis in adults. | |
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MedLine Citation:
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PMID: 9764998 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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N Barak; D Huminer; T Segal; Z Ben Ari; J Halevy; R Tur-Kaspa |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of hepatology Volume: 29 ISSN: 0168-8278 ISO Abbreviation: J. Hepatol. Publication Date: 1998 Sep |
Date Detail:
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Created Date: 1998-12-17 Completed Date: 1998-12-17 Revised Date: 2011-07-07 |
Medline Journal Info:
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Nlm Unique ID: 8503886 Medline TA: J Hepatol Country: DENMARK |
Other Details:
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Languages: eng Pagination: 482-4 Citation Subset: IM |
Affiliation:
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Department of Medicine D, Belinson Hospital, Rabin Medical Center, Petah-Tikva, Jerusalem, Israel. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acute Disease Adult Dihydrolipoamide Dehydrogenase / deficiency* Female Hepatitis / enzymology* Humans Treatment Outcome |
| Chemical | |
Reg. No./Substance:
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EC 1.8.1.4/Dihydrolipoamide Dehydrogenase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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