mitochondrial neurogastrointestinal encephalomyopathy

MeSH: C537477ORPHA: 298

Contents

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

Overview

Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy

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 neurogastrointestinal encephalomyopathy, 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

C537477

Orphanet Code

ORPHA:298

mitochondrial neurogastrointestinal encephalomyopathy

MeSH	`C537477`
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