pediatrics
Purine Catabolism Disorders
Purine nucleoside phosphorylase deficiency
This rare, Autosomal Recessive deficiency is characterized by immunodeficiency with severe T-cell dysfunction and often neurologic symptoms. Manifestations are lymphopenia, thymic deficiency, recurrent infections, and hypouricemia. Many patients have developmental delay, ataxia, or spasticity. Diagnosis of purine nucleoside phosphorylase deficiency is by DNA analysis. Treatment of purine nucleoside phosphorylase deficiency is with bone marrow or stem cell transplantation. 