ICD-11 code : 5C55.01;
Preferred Label : Lesch-Nyhan syndrome;
ICD-11 definition : 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 behavioral 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.;
ICD-11 synonym : choreoathetosis self-mutilation syndrome; deficiency of imp pyrophosphorylase; x-linked hyperuricemia; Lesch-Nyhan disease;
Origin ID : 1886495906;
UMLS CUI : C0023374;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- ICD-10 Mapping
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
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 behavioral 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.
