mitochondrial pyruvate carrier deficiency

Term ID

DOID:0080363

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. https://www.ncbi.nlm.nih.gov/pubmed/22628558

References

• OMIM:614741
• ORDO:447784

Ontology

Human Disease   ( DOID:0080363 )