Approach

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.[3] 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.

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