NDIS Disability Type: Lesch - nyhan disease (Juvenile Gout)

: Last Updated: 23 September 2019; Hits: 7719

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.