Lesch-Nyhan syndrome: pathology

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Lesch-Nyhan syndrome: pathology. LND is an in-born error of purine metabolism. Fully referenced neurology checklist.

Genetics and pathology

  • LND is an in-born error of purine metabolism
  • It is caused by mutations on the HPRT gene on chromosome Xq26
  • The deficiency of the enzyme HPRT causes the overproduction of uric acid
  • The transmission is X-linked recessive
  • The clinical severity correlates with the degree of enzyme deficiency
  • The full clinical phenotype manifests with enzyme activity <1.5%
  • It manifests mostly in males but female carriers occasionally manifest the full phenotype
  • Self-injurious behaviour usually starts around the age of 4 years

Classification of HPRT deficiency

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Acronym

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References

  1. Fu R, Ceballos-Picot I, Torres RJ, et al. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain 2014; 137:1282-303.
  2. Maramattom BV. Self-mutilation in the Lesch-Nyhan syndrome. Neurology 2005; 65:E25.
  3. Jinnah HA, Ceballos-Picot I, Torres RJ, et al. Attenuated variants of Lesch-Nyhan disease. Brain 2010; 133:671-689.
  4. Rinat C, Zoref-Shani E, Ben-Neriah Z, et al. Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease. Mol Genet Metab 2006; 87:249-252. 
  5. De Gregorio L, Jinnah HA, Harris JC, Nyhan WL, Schretlen DJ, Trombley LM, O'Neill JP. Lesch-Nyhan disease in a female with a clinically normal monozygotic twin. Mol Genet Metab 2005; 85:70-77. 
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