Svensk definition
En ärftligt överförd, könsbunden sjukdom som orsakas av brist på ett enzym i purinmetabolismen, hypoxantinfosforibosyltransferas (EC 2.4.2.8). Hos drabbade individer är det första levnadsåret normalt, men sedan uteblir normal psykomotorisk utveckling, och det uppträder extrapyramidala rörelsestörningar, tilltagande spasticitet och krampanfall. Självskadande beteenden som bitande av fingrar och läppar ses ofta. Mental utvecklingsstörning kan förekomma, men är vanligen av lindrig art. Höjda halter av urinsyra i serum leder till njursten och gikt.
Engelsk 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)
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Lesch Nyhan Syndrome — Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency — Complete Hypoxanthine Guanine Phosphoribosyltransferase 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 — Deficiency of Guanine Phosphoribosyltransferase — Guanine Phosphoribosyltransferase Deficiencies — Guanine Phosphoribosyltransferase Deficiency — Phosphoribosyltransferase Deficiencies, Guanine — Phosphoribosyltransferase Deficiency, Guanine — 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 — Deficiency of Hypoxanthine Phosphoribosyltransferase — Hypoxanthine Phosphoribosyltransferase Deficiencies — Phosphoribosyltransferase Deficiencies, Hypoxanthine — Phosphoribosyltransferase Deficiency, Hypoxanthine — Choreoathetosis Self-Mutilation Hyperuricemia Syndrome — Choreoathetosis Self Mutilation Hyperuricemia Syndrome — Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease — Hypoxanthine Phosphoribosyl Transferase Deficiency Disease — 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 — Lesch-Nyhan Disease — Lesch Nyhan Disease — Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency — 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 — 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