Lesch-Nyhan Syndrome

Overview

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Is a:

Disease or Syndrome

Definition:

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)

Synonyms:

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

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