mitochondrial DNA depletion syndrome 9

MeSH: C580473ORPHA: 17

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

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 DNA depletion syndrome 9, sourced from HPO and Orphanet clinical annotations.

Methylmalonic acidemiaMethylmalonic aciduriaGlobal developmental delay3-Methylglutaconic aciduriaFloppy infantAbnormal circulating enzyme concentration or activityAbnormal basal ganglia MRI signal intensityIntellectual disabilityEncephalopathyHepatic steatosisFailure to thriveGrowth delayCerebral atrophyIncreased circulating lactate concentrationHepatomegalyIncreased CSF lactateElevated circulating hepatic transaminase concentrationLactic acidosisSkeletal muscle atrophyDecreased activity of mitochondrial complex IVDecreased activity of mitochondrial complex IDecreased activity of mitochondrial complex IIIFeeding difficultiesMicrocephalySensorineural hearing impairmentStrabismusPtosisAggressive behaviorShort attention spanHyperhidrosisSeizureChoreoathetosisHypertoniaDystoniaMyoclonusFlexion contractureHypertrophic cardiomyopathyHypoglycemiaVomitingGastroesophageal refluxHypothermiaRespiratory distressApneaRecurrent respiratory infectionsUnsteady gaitLeukoencephalopathySleep disturbanceHyperkinetic movementsRagged-red muscle fibersRhabdomyolysisIncreased variability in muscle fiber diameterAbnormal mitochondrial shapeIncreased intramyocellular lipid dropletsHypospadiasOrofacial cleftPatent ductus arteriosusPatent foramen ovaleCoarctation of aortaShort femurEthylmalonic aciduriaAbnormal renal collecting system morphologyShort humerusPolydactylyInterrupted aortic arch

Classification & Codes

MeSH Code

C580473

Orphanet Code

ORPHA:17

mitochondrial DNA depletion syndrome 9

MeSH	`C580473`
Orphanet	`ORPHA:17`
Treatments	0 drug(s)
Symptoms on record	64 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO