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Thiamine responsive pyruvate dehydrogenase complex deficiency: A potentially treatable cause of Leigh's disease

1 Jan 2017

Abstract excerpt

Pyruvate dehydrogenase complex (PDHC) deficiency is a rare metabolic disorder that affects tissues with high energy demand such as the central nervous system. The clinico-radiological phenotype of Leigh's disease is one of its common presentations. We present a 9-month-old boy with rapidly progressive infantile Leigh's disease. PDHA1 gene sequencing revealed a pathological homozygous missense mutation c.131A>G or...

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PMID: 29204204
DOI: 10.4103/jpn.jpn_191_16

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