mitochondrial pyruvate carrier deficiency (DOID:0080363)
Alliance: disease page
Alt IDs: OMIM:614741, ORDO:447784
Definition: 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.