Purine Nucleoside Phosphorylase Deficiency
1979; Wiley; Volume: 22; Issue: 5 Linguagem: Inglês
10.1002/art.1780220513
ISSN1529-0131
AutoresRobert L. Wortmann, Catherine M. Andres, Janice Kaminska, Edwin Mejías, Erwin W. Gelfand, William N. Arnold, Kenneth Rich, Irving H. Fox,
Tópico(s)Cytomegalovirus and herpesvirus research
ResumoAbstract The biochemical features of two families with purine nucleoside phosphorylase deficiency are compared. Laboratory studies and an evaluation of kinetic and physical properties of erythrocyte purine nucleoside phosphorylase give evidence that a) the degree of abnormality in uric acid and nucleoside concentrations in plasma and urine reflect the severity of the enzymatic deficiency and b) structural alterations of the mutant enzymes result from structural gene mutations and demonstrate genetic heterogeneity in the disease purine nucleoside phosphorylase deficiency.
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