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Illness finder is a diagnostic medicine tool for educational purpose that looks up your patients' health conditions or symptoms and diagnosis and find diseases or illnesses based on chosen gender, age, risk factors, illness, signs, symptoms and prevalence. Illnessfinder is inspired by Evidence based medicine (EMB) and healthcare that aims to apply the best (most reliable) knowledge that is available at decision time. Illnessfinder aims to free up time for the therapeutic dialogue and ensure quality at the evidence based practice, uniting proven medical findings and clinical evidence with systematised data technology.
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| Lesch-Nyhan Syndrome | Legal notice |
Other terms
Lesch Nyhan Syndrome,Complete HGPRT Deficiency Disease,Lesch-Nyhan Disease,Lesch Nyhan Disease,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-Phosphoribosyl-Transferase Deficiency Disease,Hypoxanthine Phosphoribosyl Transferase Deficiency Disease,Choreoathetosis Self-Mutilation Hyperuricemia Syndrome,Choreoathetosis Self Mutilation Hyperuricemia Syndrome,Deficiency Disease, Complete HGPRT,Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency
Description
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)
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- Brain Diseases, Metabolic, Inborn
- Mental Retardation, X-Linked
- Mental Retardation, X-Linked
- Heredodegenerative Disorders, Nervous System
- Mental Retardation, X-Linked
- Brain Diseases, Metabolic, Inborn
- Purine-Pyrimidine Metabolism, Inborn Errors
- Brain Diseases, Metabolic, Inborn
- Brain Diseases, Metabolic, Inborn
- Purine-Pyrimidine Metabolism, Inborn Errors
Legal notice
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