Дефіцит біотинідази
ORPHA:79241· ICD-10 E53.8· Biotinidase deficiency
Визначення(English summary)
A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal recessive
- Вік початку
- Adolescent, Adult, Childhood, Infancy, Neonatal