Pyruvate Decarboxylase Deficiency

About the Disease
Pyruvate Dehydrogenase E1-Alpha Deficiency, also known as pyruvate dehydrogenase deficiency, is related to pyruvate dehydrogenase e3-binding protein deficiency and glycine encephalopathy, and has symptoms including lethargy, seizures and nasal flaring. An important gene associated with Pyruvate Dehydrogenase E1-Alpha Deficiency is PDHA1 (Pyruvate Dehydrogenase E1 Subunit Alpha 1), and among its related pathways/superpathways are Metabolism and ESR-mediated signaling. The drugs Strawberry and Pyruvate have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and eye, and related phenotypes are feeding difficulties in infancy and increased serum lactate

Common Targets
PDHX | PC | PDHA1

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