encephalopathy due to sulfite oxidase deficiency
ORPHA: 833
Overview
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation
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 encephalopathy due to sulfite oxidase deficiency, sourced from HPO and Orphanet clinical annotations.
MicrocephalyFull cheeksLong philtrumDeeply set eyeMyopiaEctopia lentisSeizureAtaxiaSpasticitySpastic tetraparesisNausea and vomitingDevelopmental regressionAbnormal pattern of respirationShort noseAminoaciduriaHemiplegia/hemiparesisFeeding difficulties in infancySevere intellectual disabilityProminent foreheadThick vermilion borderAbnormality of movement
Classification & Codes
Orphanet Code
ORPHA:833encephalopathy due to sulfite oxidase deficiency
| Orphanet | ORPHA:833 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO