Lesch-Nyhan Syndrome


Choreoathetosis Self Mutilation Hyperuricemia Syndrome

Choreoathetosis Self Mutilation Syndrome

Choreoathetosis Self-Mutilation Hyperuricemia Syndrome

Choreoathetosis Self-Mutilation Syndrome

Choreoathetosis Self-Mutilation Syndromes

Complete HGPRT Deficiency Disease

Complete HPRT Deficiencies

Complete HPRT Deficiency

Complete Hypoxanthine Guanine Phosphoribosyltransferase Deficiency

Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

Deficiencies, Complete HPRT

Deficiencies, HGPRT

Deficiencies, Hypoxanthine Phosphoribosyltransferase

Deficiencies, Total HPRT

Deficiency Disease, Complete HGPRT

Deficiency Disease, Hypoxanthine Phosphoribosyl Transferase

Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase

Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase

Deficiency of Guanine Phosphoribosyltransferase

Deficiency of Hypoxanthine Phosphoribosyltransferase

Deficiency, Complete HPRT

Deficiency, HGPRT

Deficiency, Hypoxanthine Phosphoribosyltransferase

Deficiency, Total HPRT

Guanine Phosphoribosyltransferase Deficiencies

Guanine Phosphoribosyltransferase Deficiency

HGPRT Deficiencies

HGPRT Deficiency

HGPRT Deficiency Disease, Complete

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 Guanine Phosphoribosyltransferase 1 Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase Deficiency

Hypoxanthine Phosphoribosyl Transferase Deficiency Disease

Hypoxanthine Phosphoribosyltransferase Deficiencies

Hypoxanthine Phosphoribosyltransferase Deficiency

Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease

Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases

Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome

Juvenile Hyperuricemia Syndrome

Juvenile Hyperuricemia Syndromes

Lesch Nyhan Disease

Lesch Nyhan Syndrome

Lesch-Nyhan Disease

Phosphoribosyltransferase Deficiencies, Guanine

Phosphoribosyltransferase Deficiencies, Hypoxanthine

Phosphoribosyltransferase Deficiency, Guanine

Phosphoribosyltransferase Deficiency, Hypoxanthine

Primary Hyperuricemia Syndrome

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 HPRT Deficiency

Total Hypoxanthine Guanine Phosphoribosyl Transferase Deficiency

Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency

X Linked Hyperuricemia

X Linked Primary Hyperuricemia

X-Linked Hyperuricemia

X-Linked Hyperuricemias

X-Linked Primary Hyperuricemia

X-Linked Primary Hyperuricemias

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)