ethylmalonic encephalopathy
MeSH: C535737ORPHA: 51188
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 ethylmalonic encephalopathy, sourced from HPO and Orphanet clinical annotations.
EncephalopathyEthylmalonic aciduriaPetechiaeAcrocyanosisIntellectual disabilitySeizureAtaxiaGeneralized hypotoniaFailure to thriveDiarrheaAbnormality of extrapyramidal motor functionDevelopmental regressionLactic acidosisAbnormal pyramidal signAbnormal basal ganglia MRI signal intensityNeurodevelopmental delayRetinal vascular tortuosityAbnormal brainstem MRI signal intensity
Classification & Codes
MeSH Code
C535737Orphanet Code
ORPHA:51188ethylmalonic encephalopathy
| MeSH | C535737 |
| Orphanet | ORPHA:51188 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO