Lesch-Nyhan Syndrome

An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)

Also Known As:

Choreoathetosis Self Mutilation Hyperuricemia Syndrome; Complete HGPRT Deficiency Disease; Deficiency Disease, Complete HGPRT; Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase; HGPRT Deficiency Disease, Complete; Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency; Lesch-Nyhan Disease; Deficiency Disease, Hypoxanthine Phosphoribosyl Transferase; Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase; Hypoxanthine Phosphoribosyl Transferase Deficiency Disease; Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases; Lesch Nyhan Disease; Lesch Nyhan Syndrome; Choreoathetosis Self-Mutilation Hyperuricemia Syndrome; Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease

Nervous System Diseases: 6158
- Neurodegenerative Diseases: 16953
  - Nervous System Heredodegenerative Disorders: 36
    - Lesch-Nyhan Syndrome: 525
- Neurologic Manifestations: 4205
  - Neurobehavioral Manifestations: 654
    - Mental Retardation: 5526
      - X-Linked Mental Retardation: 263
        Lesch-Nyhan Syndrome: 525
- Central Nervous System Diseases: 1649
  - Brain Diseases: 2114
    - Metabolic Brain Diseases: 133
      - Inborn Metabolic Brain Diseases: 1
        Lesch-Nyhan Syndrome: 525
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 668
- Inborn Genetic Diseases: 842
  - Inborn Errors Metabolism: 588
    - Inborn Metabolic Brain Diseases: 1
      - Lesch-Nyhan Syndrome: 525
    - Inborn Errors Purine-Pyrimidine Metabolism
      - Lesch-Nyhan Syndrome: 525
  - Nervous System Heredodegenerative Disorders: 36
    - Lesch-Nyhan Syndrome: 525
    - X-Linked Mental Retardation: 263
      - Lesch-Nyhan Syndrome: 525
  - X-Linked Genetic Diseases: 20
    - X-Linked Mental Retardation: 263
      - Lesch-Nyhan Syndrome: 525
Nutritional and Metabolic Diseases: 2
- Metabolic Diseases: 3200
  - Inborn Errors Metabolism: 588
    - Inborn Metabolic Brain Diseases: 1
      - Lesch-Nyhan Syndrome: 525
    - Inborn Errors Purine-Pyrimidine Metabolism
      - Lesch-Nyhan Syndrome: 525
  - Metabolic Brain Diseases: 133
    - Inborn Metabolic Brain Diseases: 1
      - Lesch-Nyhan Syndrome: 525

Inborn Errors Purine-Pyrimidine Metabolism

Disease Context: Research Results