Pyruvate Carboxylase Deficiency (PC DEFICIENCY)

Alias:

Pyruvate Carboxylase Deficiency Disease

Leigh Necrotizing Encephalopathy Due to Pyruvate Carboxylase Deficiency

Leigh Syndrome Due to Pyruvate Carboxylase Deficiency

Ataxia with Lactic Acidosis Type Ii

Pc Deficiency

Leigh Syndrome Due to Pc Deficiency

Ataxia with Lactic Acidosis Type 2

Pyruvate Carboxylase Deficiency, Severe Neonatal Type

Pyruvate Carboxylase Deficiency, Infantile Type

Pyruvate Carboxylase Deficiency, Benign Type

Pyruvate Carboxylase Deficiency Type C

Pyruvate Carboxylase Deficiency Type a

Pyruvate Carboxylase Deficiency Type B

Ataxia with Lactic Acidosis, Type Ii

Type Ii Ataxia with Lactic Acidosis

Deficiency of Pyruvic Carboxylase

Ataxia with Lactic Acidosis Ii

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Pyruvate Carboxylase Deficiency, also known as leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency, is related to pyruvate dehydrogenase e1-alpha deficiency and propionic acidemia, 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 and brain, and related phenotypes are increased serum lactate and lactic acidosis

Related ID：

MALACARDS：PYR037

OMIM：266150

MESH：D015324

ICD11：2047948460