Article
A novel mutation in purine nucleoside phosphorylase in a child with normal uric acid levels.
Clinical biochemistry - 1 Nov 2009
Al-Saud B, Alsmadi O, Al-Muhsen S, Al-Ghonaium A, Al-Dhekri H, Arnaout R, Hershfield M S, Al-Mousa H
Abstract excerpt
BACKGROUND: Purine nucleoside phosphorylase (PNP) deficiency is an autosomal recessive disease in which affected children present with recurrent infection and may present with failure to thrive, neurological impairment, autoimmunity, or malignancy. The diagnosis of PNP is usually suggested by a reduced level of serum uric acid. We report here a novel mutation in the nucleoside phosphorylase gene (NP gene) in a...
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