Article
Purine nucleoside phosphorylase deficiency: a mutation update.
Nucleosides, nucleotides & nucleic acids - 1 Dec 2011
Walker P L C, Corrigan Adele, Arenas Monica, Escuredo Emilia, Fairbanks Lynette, Marinaki Anthony
Abstract excerpt
Purine nucleoside phosphorylase (PNPase) deficiency is an autosomal recessive disorder affecting purine degradation and salvage pathways. Clinically, patients typically present with severe immunodeficiency, neurological dysfunction, and autoimmunity. Biochemically, PNPase deficiency may be suspected in the presence of hypouricemia. We report biochemical and genetic data on a cohort of seven patients from six...
Topics
- Cell Extracts
- Child, Preschool
- Female
- Humans
- Mutation
- Purine-Nucleoside Phosphorylase
- Uric Acid