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Metadata
ID	DOID:0080363
Name	mitochondrial pyruvate carrier deficiency
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. https://www.ncbi.nlm.nih.gov/pubmed/22628558
Xrefs	OMIM:614741 ORDO:447784
Subsets	DO_rare_slim
Parent Relationships	is_a mitochondrial metabolism disease is_a autosomal recessive disease