pyruvate carboxylase deficiency disease
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
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
SPBC17G9.11c