Lesch-Nyhan disease (LND) should be considered when delayed development is accompanied by a hyperkinetic disorder, particularly when brain MRI is normal.
It should be suspected if delayed development is accompanied by self-injurious behaviour or evidence of excessive production of uric acid. A clinical suspicion should always be confirmed by hypoxanthine-guanine phosphoribosyltransferase (HPRT) molecular gene analysis, and preferably also HPRT enzyme activity.
Virtually all patients are male, owing to the X-linked recessive mode of inheritance. However, a few female patients have been described. A history of LND in other family members might point towards the diagnosis. LND has been reported in most ethnic groups, with approximately equal rates.
BMJ Best Practice is an evidence-based point of care tool for healthcare practitioners.
To continue reading and access all of BMJ Best Practice's pages you'll need to log in or start a free trial.
You can access through your institution if your hospital, university, trust or other institution provides access to BMJ Best Practice through either OpenAthens or Shibboleth.
Use of this content is subject to our disclaimer