Purine and pyrimidine metabolism disorders

Definitive answers to facilitate earlier interventions

Purine and pyrimidine metabolism disorders are a group of more than 35 conditions that can affect almost any organ system, present with variable, multisystem features, and occur at any age. The most common of these disorders is a deficiency of hypoxanthine-guanine phosphoribosyl transferase (HPRT), which causes three overlapping syndromes. Most patients with HPRT deficiency have classic Lesch-Nyhan syndrome, a severe X-linked recessive disorder involving neurologic impairment, mild to severe intellectual disability, development of self-injurious behavior, and uric acid nephropathy.

Since therapeutic options for several of these conditions, such as Lesch-Nyhan syndrome, exist, confirming a diagnosis through genetic testing is important to enable early interventions and reduce morbidity.

We offer both biochemical and molecular genetic testing to confirm the diagnosis of purine and pyrimidine metabolism disorders and to monitor patients undergoing therapy. In addition, molecular genetic testing for these disorders is available through our custom gene ordering tool.