Синдром Леша-Ніхана
ORPHA:510· ICD-10 E79.1· Lesch-Nyhan syndrome
Визначення(English summary)
Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.
- Поширеність
- 1-9 / 1 000 000
- Успадкування
- X-linked recessive
- Вік початку
- Infancy