Details of Disease | DrugMAP

General Information of Disease (ID: DISTTZKG)

Disease Name	Mitochondrial pyruvate carrier deficiency
Synonyms	MPYCD; mitochondrial pyruvate carrier deficiency
Definition	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.
Disease Hierarchy	DISP5E0H: Inborn mitochondrial metabolism disorder DISFFYB2: Pyruvate metabolism disorder DISCPWH9: Autosomal recessive disease DISTTZKG: Mitochondrial pyruvate carrier deficiency
Disease Identifiers	MONDO ID MONDO_0013877 UMLS CUI C3553607 OMIM ID 614741 MedGen ID 766521 Orphanet ID 447784 SNOMED CT ID 1217212009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MPC1	OT6DYFUO	Strong	Autosomal recessive	[1]
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References

1	A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans. Science. 2012 Jul 6;337(6090):96-100. doi: 10.1126/science.1218099. Epub 2012 May 24.