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Purine nucleoside phosphorylase deficiency is a rare autosomal recessive [1] metabolic disorder which results in immunodeficiency. Signs and symptoms
n/a Ensembl n/a n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) n/a n/a PubMed search n/a n/a Wikidata View/Edit Human Purine nucleoside phosphorylase, PNP, PNPase or inosine phosphorylase (EC 2.4.2.1) is an enzyme that in humans is encoded by the NP gene. It catalyzes the chemical reaction purine nucleoside + phosphate ⇌ {\displaystyle \rightleftharpoons ...
Nezelof syndrome is an autosomal recessive [6] congenital immunodeficiency condition due to underdevelopment of the thymus.The defect is a type of purine nucleoside phosphorylase deficiency with inactive phosphorylase, this results in an accumulation of deoxy-GTP which inhibits ribonucleotide reductase.
Purines from turnover of cellular nucleic acids (or from food) can also be salvaged and reused in new nucleotides. The enzyme adenine phosphoribosyltransferase (APRT) salvages adenine. The enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) salvages guanine and hypoxanthine. [3] (Genetic deficiency of HGPRT causes Lesch–Nyhan syndrome.)
Mutations in this gene result in a loss of thymidine phosphorylase activity. [2] Thymidine phosphorylase is the enzymatic product of the TYMP gene and is responsible for breaking down thymidine nucleosides into thymine and 2-deoxyribose 1-phosphate. [2] Without normal thymidine phosphorylase activity, thymidine nucleosides begin to build up in ...
The HGPRT deficiency causes a build-up of uric acid in all body fluids. The combination of increased synthesis and decreased utilization of purines leads to high levels of uric acid production. This results in both high levels of uric acid in the blood and urine , associated with severe gout and kidney problems.
Purine nucleoside phosphorylase deficiency: An autosomal recessive disorder involving mutations of the purine nucleoside phosphorylase (PNP) gene. PNP is a key enzyme in the purine salvage pathway. Impairment of this enzyme causes elevated dGTP levels resulting in T-cell toxicity and deficiency. Reticular dysgenesis
Immunodeficiency with multiple intestinal atresias (TTC7A deficiency) Hepatic venoocclusive disease with immunodeficiency (VODI) Vici syndrome; Purine nucleoside phosphorylase (PNP) deficiency; AR-DKC (autosomal dominant dyskeratosis congenital) Hermansky–Pudlak syndrome type 2; Chronic mucocutaneous candidiasis; HOIL1 deficiency; HOIP deficiency