Article

Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes

2020-05-29

Abstract excerpt

<title>Abstract</title> <p>Background : Pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA which ultimately generates ATP. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits, and the resulting phenotype, though very heterogeneous, mainly affects the neuro-encephalic system. The aim of this study is to describe and...

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Literature Corpus work: 0f7a4cff-1c34-53fc-8eff-5033c8a12a73
DOI: 10.21203/rs.3.rs-31232/v1

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