ORPHA:3008

Pyruvate carboxylase deficiency

Also called Ataxia with lactic acidosis type 2, Ataxia with lactic acidosis type II, Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency, Leigh syndrome due to PC deficiency, Leigh syndrome due to pyruvate carboxylase deficiency

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive, Not applicable

Typical age of onset

Infancy, Neonatal

Estimated prevalence

1-9 / 1 000 000 (Europe)

Rarity class

1-9 / 1 000 000

ORPHA:3008 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.