Purine Metabolism Disorders Flashcards
1
Q
What are some of the features of patients with Lesch-Nyhan syndrome?
A
They exhibit uncontrolled movements, spasticity, mental retardation, and compulsive self-mutilation.
2
Q
How are patients with Lesch-Nyhan syndrome diagnosed and managed?
A
Diagnosis is made by assessing urine uric acid levels and investigating the function of HGPRT in skin fibroblasts. Allopurinol has been found to alleviate symptoms.
3
Q
Describe the genetic basis of Lesch-Nyhan syndrome.
A
It is an X-linked recessive disorder in which deficiency of HGPRT results in high levels of phosphoribosyl pyrophosphate and accumulation of uric acid.
