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