A patient with increased Hypoxanthine and Xanthine in blood with hypouricemia which enzyme is deficient?
Hypouricemia- Hypouricemia and increased excretion of hypoxanthine and xanthine are associated with xanthine oxidase deficiency.Lesch-Nyhan Syndrome- The Lesch-Nyhan syndrome, an overproduction hyperuricemia characterized by frequent episodes of uric acid lithiasis and a bizarre syndrome of selfmutilation reflects a defect in hypoxanthine-guanine phosphoribosyltransferase, an enzyme of purine salvage.Adenosine Deaminase Deficiency- Adenosine deaminase deficiency is associated with an immunodeficiency disease in which both thymus-derived lymphocytes (T cells) and bone marrow-derived lymphocytes (B cells) are sparse and dysfunctional. Patients suffer from severe immunodeficiency.Purine Nucleoside Phosphorylase Deficiency- Purine nucleoside phosphorylase deficiency is associated with a severe deficiency of T cells but apparently normal B cell function
HGPase
Xanthine oxidase
Adenosine deaminase
APRtase