5C55.01

ICD-11 MMS 2026-01

Lesch-Nyhan syndrome

Description

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.

Index terms

  • Lesch-Nyhan syndrome
  • HPRT - [ hypoxanthine-guanine phosphoribosyltransferase] complete deficiency
  • Lesch-Nyhan disease
Show allHide
  • choreoathetosis self-mutilation syndrome
  • complete hypoxanthine-guanine phosphoribosyltransferase deficiency
  • deficiency of imp pyrophosphorylase
  • total HGPRT - [hypoxanthine-guanine phosphoribosyltransferase] deficiency
  • x-linked hyperuricemia

Exclusions from above levels

  • GB70.0 – Calculus of kidney
  • LD27.1 – Xeroderma pigmentosum
  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
Show allHide
  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
  • 5A71.01 – Congenital adrenal hyperplasia
  • 5A81.1 – 5-alpha-reductase deficiency
  • LD28.01 – Marfan syndrome
  • LD28.1 – Ehlers-Danlos syndrome
  • LD2A.4 – androgen resistance syndrome
  • 18 – Pregnancy, childbirth or the puerperium
  • http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

  • 5C55.00 – Xanthinuria
  • 5C55.0Y – Other specified disorders of purine metabolism
  • 5C55.0Z – Disorders of purine metabolism, unspecified

Foundation entity

Lesch-Nyhan syndrome – http://id.who.int/icd/entity/1886495906

Part of: 5C55.0: Disorders of purine metabolism › 5C55: Inborn errors of purine, pyrimidine or nucleotide metabolism › 05: Endocrine, nutritional or metabolic diseases