mitochondrial pyruvate carrier deficiency
An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation.
MONDO:0004069
inborn mitochondrial metabolism disorder
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0016789
pyruvate metabolism disorder
is_a
MPYCD
related
mitochondrial pyruvate carrier deficiency
exact
SPCC1235.11