pyruvate carboxylase deficiency disease
Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency
exact
Leigh syndrome due to PC deficiency
exact
Leigh syndrome due to pyruvate carboxylase deficiency
exact
ataxia with lactic acidosis type 2
exact
ataxia with lactic acidosis type II
exact
pyruvate carboxylase deficiency disease
exact
Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.
MONDO:0019225
disorder of gluconeogenesis
is_a
SPBC17G9.11c