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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.
Purine nucleoside phosphorylase deficiency; X. Xanthinuria This page was last edited on 28 July 2015, at 17:09 (UTC). Text is available under the Creative ...
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.)
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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
Urine purine and pyrimidine analysis by gas chromatography-mass spectrometry; Specific diagnostic tests (or focused screening for a small set of disorders): [citation needed] Tissue biopsy: liver, muscle, brain, bone marrow; Skin biopsy and fibroblast cultivation for specific enzyme testing; Specific DNA testing