Дефіцит пролідази
ORPHA:742· ICD-10 E72.8· Prolidase deficiency
Визначення(English summary)
Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Adolescent, Adult, Childhood, Infancy, Neonatal