Pyruvate Dehydrogenase Deficiency

About the Disease
Pyruvate Dehydrogenase E1-Beta Deficiency, also known as pdhbd, is related to pyruvate dehydrogenase e1-alpha deficiency and oxoglutarate dehydrogenase deficiency. An important gene associated with Pyruvate Dehydrogenase E1-Beta Deficiency is PDHB (Pyruvate Dehydrogenase E1 Subunit Beta). The drugs Strawberry and Pyruvate have been mentioned in the context of this disorder. Affiliated tissues include eye, skeletal muscle and brain, and related phenotypes are agenesis of corpus callosum and abnormal facial shape

Common Targets
PDHX | DLAT | LONP1 | Pyruvate dehydrogenase kinase (nonspecified subtype) | PDHA1 | PDP1 | PDHB

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