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Lesch Nyhan syndrome
Background
Lesch Nyhan syndrome: Hypoxanthine Guanine Phosphoribosyl Transferase Deficiency: HPRT Deficiency
Lesch Nyhan syndrome was first described in 1964. It is a very rare genetic metabolic disorder usually occurring in boys but carried by females. A few affected females have also been reported. It is caused by virtually complete deficiency of the enzyme hypoxanthine guanine phosphoribosyl transferase (HPRT), which is important in purine metabolism. Cases have been described where HPRT deficiency was incomplete and associated with no obvious neurological or behavioural abnormalities.
