mitochondrial complex I deficiency
MeSH: C537475ORPHA: 2609
Overview
Human disease
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 I deficiency, sourced from HPO and Orphanet clinical annotations.
Decreased activity of mitochondrial complex IProximal tubulopathySensorineural hearing impairmentStrabismusPtosisOptic disc pallorNystagmusReduced eye contactOptic neuropathyAtaxiaHypotoniaLethargyGlobal developmental delayEncephalopathyMuscle weaknessFailure to thriveIntrauterine growth retardationHypertrophic cardiomyopathyHypoglycemiaVomitingRespiratory insufficiencyHepatomegalyLeukoencephalopathyLeukodystrophyPoor head controlIncreased CSF lactateLactic acidosisIncreased circulating pyruvate concentrationMitochondrial myopathyParoxysmal involuntary eye movementsAbnormal mitochondria in muscle tissueFocal T2 hyperintense brainstem lesionMicrocephalyBlindnessDiabetes mellitusFeeding difficultiesFetal distress
Classification & Codes
MeSH Code
C537475Orphanet Code
ORPHA:2609mitochondrial complex I deficiency
| MeSH | C537475 |
| Orphanet | ORPHA:2609 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO