Encephalopathy due to sulfite oxidase deficiency
ORPHA:833· ICD-10 E72.1
Definition
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal