This fact sheet provides information about Lesch-nyhan disease, its classification, signs and symptoms, and treatment.

 

Lesch-nyhan disease

Lesch-Nyhan syndrome is an x-linked [meaning it is passed along via the X-chromosome] error in metabolism that is caused by a deficiency in the hypoxanthine-guanine phosphoribosyltransferase [HPRT] enzyme.

Essentially, a deficiency in this enzyme leads to the overproduction of uric acid, which is toxic to the body, and is characterised by neurological and behavioural abnormalities.

As this condition is x-linked it occurs almost exclusively in males, and has an estimated prevalence of approximately 1 case per 235,000-380,000 live births.

Classification

HPRT-related neurological disease: increased levels of uric acid in the blood, with some degree of neurological dysfunction and/or cognitive deficit

HPRT- related hyperuricemia: increased levels of uric acid in the blood, with no neurological dysfunction

Signs and Symptoms

  • Kidney stones: caused by the build-up of uric acid which crystallises in the urinary tract. May cause blood in the urine, and pain in the abdomen and groin.
  • Gout: caused by the build-up of uric acid that form crystals in the joints.
  • Causes joint pain and inflammation.
  • Neurological symptoms, which usually develop before the age of 12 months:
  • Increased reflexes
  • Developmental delay
  • Involuntary movements
  • Decreased muscle tone
  • Self-injurious behaviour such as banging of the head against hard objects, repeated biting of lips or fingers.

 

 Treatment

  • There is currently no cure for Lesch-Nyhan syndrome
  • Treatment is aimed towards symptom relief; some areas include:
  • Allopurinol is a drug that decreases uric acid levels in the blood
  • Treatment of symptomatic kidney stones by a doctor, usually in hospital
  • Specialist treatment for behavioural symptoms

 

References

Lesch-Nyhan Disease. (2019). Retrieved from https://bestpractice-bmj-com.ipacez.nd.edu.au/topics/en-gb/1192/pdf/1192.pdf \

Reference, G. (2019). Lesch-Nyhan syndrome. Retrieved from https://ghr.nlm.nih.gov/condition/lesch-nyhan-syndrome#synonyms

Lesch Nyhan syndrome. (2019). Retrieved from https://rarediseases.info.nih.gov/diseases/7226/lesch-nyhan-syndrome

Kasper, D., Fauci, A., & Hauser, S. (2012). Harrison's principles of internal medicine (18th ed., p. 3185). New York: Mc Graw Hill education.