mitochondrial complex V (ATP synthase) deficiency
ORPHA: 254913
Overview
mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with mitochondrial complex V (ATP synthase) deficiency, sourced from HPO and Orphanet clinical annotations.
SeizureAtaxiaHypotoniaMotor delayEncephalopathyMuscle weaknessHypertrophic cardiomyopathyDilated cardiomyopathyHyperammonemiaRespiratory distressLactic acidosisHyperalaninemia3-Methylglutaconic aciduriaPeripheral neuropathyArrhythmiaNeurodevelopmental delayRenal hypoplasiaHypogonadismMicrocephalySensorineural hearing impairmentStrabismusPtosisRod-cone dystrophyCataractBlindnessNystagmusOptic atrophyHypothyroidismLethargySpastic paraplegiaDysarthriaCerebellar atrophyDystoniaCerebral cortical atrophyHepatomegalyTetraplegiaExercise intoleranceShort statureMyoclonic seizureOphthalmoplegia
Classification & Codes
Orphanet Code
ORPHA:254913mitochondrial complex V (ATP synthase) deficiency
| Orphanet | ORPHA:254913 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO