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mitochondrial pyruvate carrier deficiency (MPYCD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial pyruvate carrier deficiency

MONDO:0013877

Also known as:MPYCD

Overview

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.

GeneticsAutosomal recessive · MPC1 (chr 6)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include sometimes findings: Epicanthus, Encephalopathy, Progressive microcephaly, and Rotary nystagmus and others. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Encephalopathy, Seizure, Global developmental delay

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MPC1 encodes mitochondrial pyruvate carrier 1 (109 aa). Mediates the uptake of pyruvate into mitochondria to maintain the balance between glycolysis and oxidative phosphorylation. Plays an essential role in cellular metabolism Highest expression in Heart Left Ventricle (168.8 TPM) and Brain Spinal cord cervical c-1 (164.5 TPM).

Mitochondrial pyruvate carrier deficiency is associated with mutations in the MPC1 gene on chromosome 6.

The MPC1 protein participates in MPC1:MPC2 imports PYR, H+ to mitochondrial matrix pathway.

MPC1 is classified as a druggable target (Transporter category) with score 0.0.

Diagnosis

Genetic testing for MPC1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for mitochondrial pyruvate carrier deficiency.

3 publications have been identified in PubMed for mitochondrial pyruvate carrier deficiency. Research spans Basic Science / Preclinical (100%).

Recent Publications

Zhu Q (2026). [PMID: 41576477](https://pubmed.ncbi.nlm.nih.gov/41576477/). *Biochem Biophys Res Commun*. [Basic Science / Preclinical]
Fu Y (2026). [PMID: 42137567](https://pubmed.ncbi.nlm.nih.gov/42137567/). *Front Pediatr*. [Basic Science / Preclinical]
Barile SN (2025). [PMID: 41398145](https://pubmed.ncbi.nlm.nih.gov/41398145/). *Cell Death Dis*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614741

Orphanet

European rare disease database

Orphanet:447784

GARD

Genetic and Rare Diseases Info Center

GARD:17771

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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mitochondrial pyruvate carrier deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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