Version: 8.0.0
Date: Tue Jan 28 2025
mitochondrial pyruvate carrier deficiency
DOID:0080363
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
None
Cross References
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