Disease-gene associations mined from literature

Human genes for mitochondrial pyruvate carrier deficiency

Mitochondrial pyruvate carrier deficiency [DOID:0080363]

A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27.

Synonyms:  mitochondrial pyruvate carrier deficiency,  DOID:0080363,  mitochondrial pyruvate carrier deficiencies