Pyruvate dehydrogenase complex deficiency due to a...[Hum Mol Genet. 1995] - PubMed Result

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1: Hum Mol Genet. 1995 Feb;4(2):315-8. Links

Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.

Hemalatha SG, Kerr DS, Wexler ID, Lusk MM, Kaung M, Du Y, Kolli M, Schelper RL, Patel MS.

Department of Biochemistry, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.

PMID: 7757088 [PubMed - indexed for MEDLINE]

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Thiamine is a vitamin used by the body to break down sugars in the diet. The medication helps correct nerve and heart problems that occur when a person's diet does not contain enough thiamine.
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