Conditions / Genetic
Lesch-Nyhan syndrome
info · Genetic · ICD-10: E79.1
A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome X
A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26.
Signs and symptoms
- Poor head control
- Hypotonia
- Intellectual disability
- Global developmental delay
- Hyperuricemia
- Self-injurious behavior
- Nephrocalcinosis
- Short stature
- Dystonia
- Motor delay
Medications that may treat it
Also known as: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency; HG-PRT deficiency; HPRT1 deficiency; Hypoxanthine-guanine phosphoribosyltransferase deficiency; Hypoxanthine-guanine-phosphoribosyltransferase deficiency