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Flashcards in Purine Metabolism Disorders Deck (3)
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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.