Дефіцит пероксисомальної ацил-КоА-оксидази
ORPHA:2971· ICD-10 E71.3· Peroxisomal acyl-CoA oxidase deficiency
Визначення(English summary)
Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Neonatal