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mitochondrial proton-transporting ATP synthase complex deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial proton-transporting ATP synthase complex deficiency

MONDO:0014471

Also known as:mitochondrial complex V (ATP synthase) deficiencyisolated ATP synthase deficiencyisolated mitochondrial respiratory chain complex V deficiency

Overview

A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).

OnsetNEONATAL

Diagnosis

Biomarker and diagnostic research for mitochondrial proton-transporting ATP synthase complex deficiency has been reported in the published literature.

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 proton-transporting ATP synthase complex deficiency.

17 publications have been identified in PubMed for mitochondrial proton-transporting ATP synthase complex deficiency. Research spans Basic Science / Preclinical (75%), Diagnostic / Biomarker (13%), and Case Report / Case Series (13%).

Research Type	Count	% of Total
Laboratory research	12	75%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 3:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:254913

GARD

Genetic and Rare Diseases Info Center

GARD:18649

Questions for Your Care Team

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mitochondrial proton-transporting ATP synthase complex deficiency

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications