5C55.01 Lesch-Nyhan syndrome
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioural problems. Patients are normal at birth. Psychomotor delay becomes evident within 3 to 6 months with a delay in head support and sitting, hypotonia and athetoid movements. Sandy urine in diapers or crystalluria with urinary tract obstruction are common forms of presentation. Patients usually show mild to moderate intellectual deficit. Diagnosis is suspected when psychomotor delay occurs in a patient with elevated UA in blood and urine. Undetectable HPRT enzyme activity in peripheral blood or in intact cells (erythrocyte, fibroblast) and molecular genetic testing confirm the diagnosis. Inheritance is X-linked recessive.
synonyms
- Lesch-Nyhan syndrome
- choreoathetosis self-mutilation syndrome
- deficiency of imp pyrophosphorylase
- x-linked hyperuricemia
- Lesch-Nyhan disease
- complete hypoxanthine-guanine phosphoribosyltransferase deficiency
- HPRT - [ hypoxanthine-guanine phosphoribosyltransferase] complete deficiency
- total HGPRT - [hypoxanthine-guanine phosphoribosyltransferase] deficiency
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