Lesch-Nyhan syndrome: pathology

Evidence-based neurology checklist on lesch-nyhan syndrome: pathology: 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…

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

Acronym

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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