Disease

Pyruvate Carboxylase Deficiency Disease

About the Disease
Pyruvate Carboxylase Deficiency, also known as pyruvate carboxylase deficiency disease, is related to propionic acidemia and thrombophilia due to protein c deficiency, autosomal recessive, and has symptoms including periodic lactate elevations, clonus and seizures. An important gene associated with Pyruvate Carboxylase Deficiency is PC (Pyruvate Carboxylase). The drug Pyruvate has been mentioned in the context of this disorder. Affiliated tissues include liver, brain and cortex, and related phenotypes are increased serum lactate and lactic acidosis

Common Targets
PC | ATP6 | PDHA1

疾病靶点研报
Pyruvate Carboxylase Deficiency Disease

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