04-12-2007, 11:09 AM
A child presents with recurrent infections, and blood analysis shows a hypogammaglobulinemia. Assay of a blood sample shows increased concentrations of dATP in the white cells. The most likely diagnosis is
A. Orotic aciduria
B. Purine nucleoside phosphorylase deficiency
C. Adenosine deaminase deficiency
D. Lesch-Nyhan syndrome
E. Gout
A. Orotic aciduria
B. Purine nucleoside phosphorylase deficiency
C. Adenosine deaminase deficiency
D. Lesch-Nyhan syndrome
E. Gout