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