Pyruvate Dehydrogenase Phosphatase Deficiency (PDHPD)

Pyruvate Dehydrogenase Phosphatase Deficiency, also known as pdh phosphatase deficiency, is related to pyruvate dehydrogenase e1-alpha deficiency and lactic acidosis, and has symptoms including seizures and gait ataxia. An important gene associated with Pyruvate Dehydrogenase Phosphatase Deficiency is PDP1 (Pyruvate Dehydrogenase Phosphatase Catalytic Subunit 1). The drug Pyruvate has been mentioned in the context of this disorder. Affiliated tissues include brain and skin, and related phenotypes are decreased activity of the pyruvate dehydrogenase complex and neonatal hypotonia