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)

Descriptor ID	D007926
MeSH Number(s)	C10.228.140.163.100.425 C10.597.606.643.455.625 C16.320.322.500.625 C16.320.400.525.625 C16.320.565.189.425 C16.320.565.798.594 C18.452.132.100.425 C18.452.648.189.425 C18.452.648.798.594
Concept/Terms	Lesch-Nyhan Syndrome Lesch-Nyhan Syndrome Lesch Nyhan Syndrome Complete HGPRT Deficiency Disease Deficiency Disease, Complete HGPRT Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease, Hypoxanthine Phosphoribosyl Transferase Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases HGPRT Deficiency Disease, Complete Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease Hypoxanthine Phosphoribosyl Transferase Deficiency Disease Lesch-Nyhan Disease Lesch Nyhan Disease Choreoathetosis Self-Mutilation Syndrome Choreoathetosis Self Mutilation Syndrome Choreoathetosis Self-Mutilation Syndromes Self-Mutilation Syndrome, Choreoathetosis Self-Mutilation Syndromes, Choreoathetosis Syndrome, Choreoathetosis Self-Mutilation Syndromes, Choreoathetosis Self-Mutilation Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Complete Hypoxanthine Guanine Phosphoribosyltransferase Deficiency Deficiency of Guanine Phosphoribosyltransferase Guanine Phosphoribosyltransferase Deficiencies Guanine Phosphoribosyltransferase Deficiency Phosphoribosyltransferase Deficiencies, Guanine Phosphoribosyltransferase Deficiency, Guanine Deficiency of Hypoxanthine Phosphoribosyltransferase Hypoxanthine Phosphoribosyltransferase Deficiencies Phosphoribosyltransferase Deficiencies, Hypoxanthine Phosphoribosyltransferase Deficiency, Hypoxanthine Hypoxanthine Guanine Phosphoribosyltransferase Deficiency Hypoxanthine Phosphoribosyltransferase Deficiency Deficiencies, Hypoxanthine Phosphoribosyltransferase Deficiency, Hypoxanthine Phosphoribosyltransferase Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome Juvenile Hyperuricemia Syndrome Hyperuricemia Syndrome, Juvenile Hyperuricemia Syndromes, Juvenile Juvenile Hyperuricemia Syndromes Syndrome, Juvenile Hyperuricemia Syndromes, Juvenile Hyperuricemia Primary Hyperuricemia Syndrome Hyperuricemia Syndrome, Primary Hyperuricemia Syndromes, Primary Primary Hyperuricemia Syndromes Syndrome, Primary Hyperuricemia Syndromes, Primary Hyperuricemia Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency Total Hypoxanthine Guanine Phosphoribosyl Transferase Deficiency X-Linked Hyperuricemia Hyperuricemia, X-Linked Hyperuricemias, X-Linked X Linked Hyperuricemia X-Linked Hyperuricemias X-Linked Primary Hyperuricemia Hyperuricemia, X-Linked Primary Hyperuricemias, X-Linked Primary Primary Hyperuricemia, X-Linked Primary Hyperuricemias, X-Linked X Linked Primary Hyperuricemia X-Linked Primary Hyperuricemias HGPRT Deficiency Deficiencies, HGPRT Deficiency, HGPRT HGPRT Deficiencies Total HPRT Deficiency Deficiencies, Total HPRT Deficiency, Total HPRT HPRT Deficiencies, Total HPRT Deficiency, Total Total HPRT Deficiencies Complete HPRT Deficiency Complete HPRT Deficiencies Deficiencies, Complete HPRT Deficiency, Complete HPRT HPRT Deficiencies, Complete HPRT Deficiency, Complete Choreoathetosis Self-Mutilation Hyperuricemia Syndrome Choreoathetosis Self Mutilation Hyperuricemia Syndrome

Below are MeSH descriptors whose meaning is more general than "Lesch-Nyhan Syndrome".

Below are MeSH descriptors whose meaning is related to "Lesch-Nyhan Syndrome".

Below are MeSH descriptors whose meaning is more specific than "Lesch-Nyhan Syndrome".