mitochondrial DNA depletion syndrome 4b
ORPHA: 298
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 4b, 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
Orphanet Code
ORPHA:298mitochondrial DNA depletion syndrome 4b
| Orphanet | ORPHA:298 |
| Treatments | 0 drug(s) |
| Symptoms on record | 48 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO