| Pyruvate decarboxylase deficiency in subacute necrotizing encephalomyelopathy. | |
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MedLine Citation:
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PMID: 7247788 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A partial deficiency of pyruvate decarboxylase (PDC) was demonstrated in a child with hyperlactatemia and progressive ataxia, bulbar paresis, ophthalmoplegia, and polyneuropathy. Subacute necrotizing encephalomyelopathy (SNE) was found at necropsy. The association of SNE and PDC deficiency has been reported rarely, but a review of the diverse metabolic defects associated with SNE suggests that decreased PDC activity may be the common feature of SNE. |
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Authors:
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O B Evans |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Archives of neurology Volume: 38 ISSN: 0003-9942 ISO Abbreviation: Arch. Neurol. Publication Date: 1981 Aug |
Date Detail:
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Created Date: 1981-08-27 Completed Date: 1981-08-27 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0372436 Medline TA: Arch Neurol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 515-9 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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Alanine
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blood Ataxia / diagnosis Brain / pathology Brain Diseases / diagnosis, metabolism*, pathology Carbohydrate Metabolism, Inborn Errors / diagnosis Carboxy-Lyases / deficiency* Humans Infant Lactates / blood Paralysis / diagnosis Pyruvate Decarboxylase / deficiency* Pyruvates / blood |
| Chemical | |
Reg. No./Substance:
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0/Lactates; 0/Pyruvates; 56-41-7/Alanine; EC 4.1.1.-/Carboxy-Lyases; EC 4.1.1.1/Pyruvate Decarboxylase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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