Enzyme Research

Studies from King Saud University, Medical Department describe new findings in enzyme research

Published in Proteomics Weekly, October 19th, 2009

"Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive metabolic disorder that results in combined immunodeficiency, neurologic dysfunction and autoimmunity. PNP deficiency has never been reported from Saudi Arabia or in patients with an Arabic ethnic background," investigators in Riyadh, Saudi Arabia report.

"We report on two Saudi girls with PNP deficiency. Both showed severe lymphopenia and neurological involvement. Sequencing of the PNP gene of one girl revealed a novel missense mutation Pro146 >Leu in exon 4 due to a change in the codon from CCT >CTT," wrote A. Alangari and colleagues, King Saud University, Medical Department.

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Source: Proteomics Weekly (2009-10-19)

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