Lesch-Nyhan Syndrome

Lesch-Nyhan Syndrome is a recessive x-linked disorder caused by a mutation in the HPRT gene encoding hypoxanthine guanine phosphoribosyltransferase, which results in increased levels of uric acid.

Features include:
  • Mental retardation 
  • Self-mutilation – biting fingers and lips 
  • Orange crystals in nappies 
  • Gout 
  • Megaloblastic anaemia

Management: allopurinol 

Prognosis: death in 20s/30s

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