{"id":12452,"date":"2024-10-11T21:18:08","date_gmt":"2024-10-11T19:18:08","guid":{"rendered":"https:\/\/valintermed.com\/?p=12452"},"modified":"2024-10-11T21:18:08","modified_gmt":"2024-10-11T19:18:08","slug":"defitsit-purinovoy-nukleozidfosforilazy","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/purine-nucleozidfosforilazy-deficiency\/","title":{"rendered":"Purine nucleoside phosphorylase deficiency"},"content":{"rendered":"
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Purine nucleoside phosphorylase deficiency (PNP) is a rare but serious inherited disorder associated with a disorder of purine metabolism in the body. This disorder is associated with a deficiency of the enzyme purine nucleoside phosphorylase, which is responsible for the conversion of purine nucleosides into purine nucleotides, which play a key role in cellular metabolism and nucleic acid synthesis. As a result of insufficient activity of this enzyme, patients with PNP experience severe metabolic disorders, which can lead to the accumulation of toxic metabolites, immunodeficiencies, and various neurological manifestations. The disease can manifest itself in childhood, but there are cases when clinical manifestations occur later.<\/p>\n

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