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Mitochondrial pyruvate carrier deficiency
rareAn autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation.
- Identifiers
- MONDO:0013877 OMIM:614741Orphanet:447784
- Causal genes
- MPC1
- Part of
- Autosomal recessive diseaseInborn mitochondrial metabolism disorderPyruvate metabolism disorder
- Also known as
- MPYCD
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