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mitochondrial pyruvate carrier deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation.
Uniprot Description An autosomal recessive metabolic disorder characterized by severely delayed psychomotor development, mild dysmorphic features, hepatomegaly, marked metabolic acidosis, hyperlactacidemia with normal lactate/pyruvate, and encephalopathy. Some patients have epilepsy and peripheral neuropathy.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0013877:  mitochondrial pyruvate carrier deficiency
Orphanet:447784: 
UMLS:C3553607: