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

References 

OMIM: Lesch-Nyhan Syndrome. Available at http://omim.org/entry/300322?search=LESCH%20NYHAN&highlight=lesch%20nyhan 

Torres, R. and Puig, J. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis. 2007; 2:48.