| Abnormality of a thiamine-requiring enzyme in patients with Wernicke-Korsakoff syndrome. | |
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MedLine Citation:
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PMID: 927453 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We studied a thiamine-requiring enzyme in cultured cells from four patients with the Wernicke-Korsakoff syndrome to determine whether these patients have a genetic predilection to thiamine deficiency. Transketolase in fibroblasts from the patients with the syndrome bound thiamine pyrophosphate less avidly than control lines. The apparent Km for thiamine pyrophosphate was 195 +/- 31 micron for transketolase in extracts of the patients' cells as compared to 16 +/- 2 micron in six control lines (means +/- S.E.M.: P less than 0.001). The ranges were 146 to 281 micron for the patients and 12 to 20 micron for the controls. The abnormality in transketolase persisted through serial passages in tissue culture in cells grown in medium containing excess thiamine and no ethanol, indicating that the aberrations were genetic rather than dietary. The abnormality of transketolase in this syndrome would presumably be clinically unimportant if the diet was adequate. These patients appear to have deleterious inborn enzymatic abnormalities of a type originally postulated by Garrod. |
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Authors:
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J P Blass; G E Gibson |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: The New England journal of medicine Volume: 297 ISSN: 0028-4793 ISO Abbreviation: N. Engl. J. Med. Publication Date: 1977 Dec |
Date Detail:
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Created Date: 1978-01-27 Completed Date: 1978-01-27 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0255562 Medline TA: N Engl J Med Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 1367-70 Citation Subset: AIM; IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Alcohol Amnestic Disorder
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enzymology*,
genetics Cell Line Female Humans Kinetics Male Middle Aged Mutation Thiamine Deficiency / metabolism Thiamine Pyrophosphate / metabolism Transketolase / genetics*, metabolism Wernicke Encephalopathy / enzymology*, genetics |
| Chemical | |
Reg. No./Substance:
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154-87-0/Thiamine Pyrophosphate; EC 2.2.1.1/Transketolase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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