Hypoxanthine guanine phosphoribosyltransferase deficiency
Overview
The genetic basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency has been identified by nucleotide sequence analysis of HPRT cDNAs cloned from a patient with gout. A single nucleotide change was identified in two independent clones: an A to G transition at nucleotide 602. Confirmation of a mutation at this site was provided by RNase mapping analysis
Symptoms
Symptoms of Lesch-Nyhan Syndrome usually present themselves early in infancy. Sand-like crystals appear in diapers of infants. Infants affected with Lesch-Nyhan Syndrome may also seem unusually irritable and unable to lift his or her head at age 4-6 months. They may also display uncontrolled writhing motions and have poor motor development.
Treatment
Treatments include medication to lower uric acid levels in the blood. Patients must closely monitor their fluid intake to ensure that they are well hydrated. Parents with children inflicted with Lesch-Nyhan Syndrome must take special precautions in their household, such as padding any sharp corners, to prevent further injury when their children uncontrollably engage in self-destructive behavior.