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mitochondrial DNA depletion syndrome 1

MeSH: C536350ORPHA: 298

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 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 1, sourced from HPO and Orphanet clinical annotations.

External ophthalmoplegiaVomitingDysphagiaNauseaGastroesophageal refluxAbdominal painLeukoencephalopathyGastrointestinal dysmotilityAbdominal distentionCachexiaPoor appetiteSensorimotor neuropathySmall intestinal dysmotilityAtrophic muscularis propriaSensorineural hearing impairmentPtosisOphthalmoparesisAbnormality of the handWeight lossDiarrheaDistal muscle weaknessAbnormal cerebral white matter morphologyElevated circulating hepatic transaminase concentrationIncreased CSF protein concentrationLactic acidosisRagged-red muscle fibersHyperalaninemiaDecreased number of large peripheral myelinated nerve fibersEasy fatigabilityParesthesiaDecreased motor nerve conduction velocityDecreased sensory nerve conduction velocityPeripheral axonal neuropathyDemyelinating peripheral neuropathyAbnormality of the extraocular musclesFoot dorsiflexor weaknessPeripheral neuropathyAbnormality of the gastrointestinal tractAbnormality of the mitochondrionHypogonadotropic hypogonadismHypergonadotropic hypogonadismIntellectual disabilityCirrhosisMacrovesicular hepatic steatosisAnemiaDecreased muscle massAbnormal cell morphologyDementia

Classification & Codes

MeSH Code

C536350

Orphanet Code

ORPHA:298
mitochondrial DNA depletion syndrome 1
MeSHC536350
OrphanetORPHA:298
Treatments0 drug(s)
Symptoms on record48 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
mitochondrial DNA depletion syndrome 1 | OrphanDrug