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 phosphobosyltransferase [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.