Term Name:	mitochondrial pyruvate carrier deficiency
Synonyms:
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.
Ontology:	Human Disease [DOID:0080363]   ( DOID:0080363 )