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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

Parent Relationships

is_a mitochondrial metabolism disease

is_a autosomal recessive disease

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