mitochondrial pyruvate carrier deficiency
MONDO:0013877Mondo
Findings
No curated finding names mitochondrial pyruvate carrier deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0013877), read 2026-09-29. CC BY 4.0.
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MPC1HGNC:21606
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2020
- MPC2HGNC:24515
- Moderate · PanelApp Australia · Autosomal recessive · 2025