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; Choreoathetosis Self-Mutilation Syndrome; Complete HGPRT Deficiency Disease; Complete HPRT Deficiency; Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency; Deficiency Disease, Complete HGPRT; Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase; Deficiency of Guanine Phosphoribosyltransferase; Deficiency of Hypoxanthine Phosphoribosyltransferase; HGPRT Deficiency; HGPRT Deficiency Disease, Complete; Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency; Hypoxanthine Guanine Phosphoribosyltransferase Deficiency; Hypoxanthine Phosphoribosyltransferase Deficiency; Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome; Juvenile Hyperuricemia Syndrome; Lesch-Nyhan Disease; Primary Hyperuricemia Syndrome; Total HPRT Deficiency; Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency; X-Linked Hyperuricemia; X-Linked Primary Hyperuricemia; Choreoathetosis Self Mutilation Syndrome; Choreoathetosis Self-Mutilation Syndromes; Complete HPRT Deficiencies; Complete Hypoxanthine Guanine Phosphoribosyltransferase Deficiency; Deficiencies, Complete HPRT; Deficiencies, HGPRT; Deficiencies, Hypoxanthine Phosphoribosyltransferase; Deficiencies, Total HPRT; Deficiency Disease, Hypoxanthine Phosphoribosyl Transferase; Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase; Deficiency, Complete HPRT; Deficiency, HGPRT; Deficiency, Hypoxanthine Phosphoribosyltransferase; Deficiency, Total HPRT; Guanine Phosphoribosyltransferase Deficiencies; Guanine Phosphoribosyltransferase Deficiency; HGPRT Deficiencies; HPRT Deficiencies, Complete; HPRT Deficiencies, Total; HPRT Deficiency, Complete; HPRT Deficiency, Total; Hyperuricemia Syndrome, Juvenile; Hyperuricemia Syndrome, Primary; Hyperuricemia Syndromes, Juvenile; Hyperuricemia Syndromes, Primary; Hyperuricemia, X-Linked; Hyperuricemia, X-Linked Primary; Hyperuricemias, X-Linked; Hyperuricemias, X-Linked Primary; Hypoxanthine Phosphoribosyl Transferase Deficiency Disease; Hypoxanthine Phosphoribosyltransferase Deficiencies; Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases; Juvenile Hyperuricemia Syndromes; Lesch Nyhan Disease; Lesch Nyhan Syndrome; Phosphoribosyltransferase Deficiencies, Guanine; Phosphoribosyltransferase Deficiencies, Hypoxanthine; Phosphoribosyltransferase Deficiency, Guanine; Phosphoribosyltransferase Deficiency, Hypoxanthine; Primary Hyperuricemia Syndromes; Primary Hyperuricemia, X-Linked; Primary Hyperuricemias, X-Linked; Self-Mutilation Syndrome, Choreoathetosis; Self-Mutilation Syndromes, Choreoathetosis; Syndrome, Choreoathetosis Self-Mutilation; Syndrome, Juvenile Hyperuricemia; Syndrome, Primary Hyperuricemia; Syndromes, Choreoathetosis Self-Mutilation; Syndromes, Juvenile Hyperuricemia; Syndromes, Primary Hyperuricemia; Total HPRT Deficiencies; Total Hypoxanthine Guanine Phosphoribosyl Transferase Deficiency; X Linked Hyperuricemia; X Linked Primary Hyperuricemia; X-Linked Hyperuricemias; X-Linked Primary Hyperuricemias; Choreoathetosis Self-Mutilation Hyperuricemia Syndrome; Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease

Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Neurobehavioral Manifestations: 1632
    - Intellectual Disability: 8222
      - X-Linked Mental Retardation: 273
        Lesch-Nyhan Syndrome: 730
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Lesch-Nyhan Syndrome: 730
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Lesch-Nyhan Syndrome: 730
    - Inborn Errors Purine-Pyrimidine Metabolism
      - Lesch-Nyhan Syndrome: 730
  - Nervous System Heredodegenerative Disorders: 62
    - X-Linked Mental Retardation: 273
      - Lesch-Nyhan Syndrome: 730
  - X-Linked Genetic Diseases: 42
    - X-Linked Mental Retardation: 273
      - Lesch-Nyhan Syndrome: 730
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Lesch-Nyhan Syndrome: 730
    - Inborn Errors Purine-Pyrimidine Metabolism
      - Lesch-Nyhan Syndrome: 730
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Lesch-Nyhan Syndrome: 730

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