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See Latest ArticlesPurine nucleoside phosphorylase deficiency with fatal course in two sisters
European Journal of Pediatrics, 08/10/09
Aytekin C et al. – The patients also suffered from sclerosing cholangitis. Mutation analysis of the PNP gene from both sisters revealed a homozygous mutation for a G>A at nucleotide 349, which changes alanine 117 to theronine in exon 4. An increased awareness of early signs, symptoms, and abnormal laboratory findings of PNP deficiency will establish the early prognosis and treatment.
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