Purine Nucleoside Phosphorylase Deficiency
Purine Nucleoside Phosphorylase Deficiency Definition
Purine nucleoside phophorylase deficiency is a rare autosomal recessive metabolic disorder that causes severe immunodeficiency problems. It is caused by the disruption of the purine nucleoside phosphorylase enzymatic pathway during gene development.
Purine Nucleoside Phosphorylase Deficiency Symptoms and Signs
Persons with this disease may experience autoimmune disorders, hemolytic anemia, and other neurological problems such as decline of development, hypotonia and mental retardation.