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887 Possible Causes for acid, activity, orotic, phosphoribosyltransferase

Did you mean: acne, activity, orotic, phosphoribosyltransferase

  • Disorder of Pyrimidine Metabolism

    Human catabolizes purine (Adenine & Guamine) to uric acid, which is relatively insoluble aicd.[gradestack.com] In the most common of the hyperuricemic metabolic disorders, deficiency of hypoxanthine phosphoribosyl transferase, the fundamental deficiency in the activity of an enzyme[ncbi.nlm.nih.gov] Mental retardation is common but normal intelligence occurs in some cases Rare x-linked disorder of purine metabolism, due to deficiency of hypoxanthine phosphoribosyltransferase[icd9data.com] See also specific forms, such as aminoaciduria, orotic aciduria. orotic aciduria appearance of orotic acid, an intermediate of pyrimidine synthesis, in the urine due to a[medical-dictionary.thefreedictionary.com]

  • Hereditary Orotic Aciduria

    […] cytidylic acid while steroid hormones were continued.[bloodjournal.hematologylibrary.org] In the cancer cells, the OPRT activity is paralleled with the UPRT activity.[ncbi.nlm.nih.gov] phosphoribosyltransferase appear to be normal in cattle heterozygous for UMP synthase deficiency.[ncbi.nlm.nih.gov] Conclusion Patients with orotic aciduria with and without megaloblastic anemia cannot be distinguished by ratio of orotic acid to orotidine.[ncbi.nlm.nih.gov]

  • Disorder of Purine Metabolism

    Certain uricosuric drugs such as salicylates, block reabsorption of uric acid. Lactic acid competes with luic acid in its excretion.[7med-pdf.com] In comparison with the activity in the brain and liver of an infant of 2 years, the activity of the organs of a fetus of 8 months as well as of an adult tended to be lower[jstage.jst.go.jp] Mental retardation is common but normal intelligence occurs in some cases Rare x-linked disorder of purine metabolism, due to deficiency of hypoxanthine phosphoribosyltransferase[icd9data.com] orotic phosphoribosyltransferase and orotidine monophosphate decarboxylase which reside in a single protein.[ncbi.nlm.nih.gov]

  • Lesch Nyhan Syndrome

    After adenine application a decrease of the cumulative 15N uric acid excretion occurs and the percentual proportion of 15N uric acid in total 15N excretion decreases.[ncbi.nlm.nih.gov] Plasma CuZn-superoxide dismutase activity was two times higher (p less than 0.001) and Mn-superoxide dismutase activity was 1.5 times higher (p less than 0.05) than in controls[ncbi.nlm.nih.gov] Abstract The Lesch-Nyhan syndrome results as a consequence of a severe deficiency of functional activity of purine salvage enzyme, hypoxanthine phosphoribosyltransferase ([ncbi.nlm.nih.gov] […] deficiency Dihydrouracil dehydrogenase deficiency Disorder of purine and pyrimidine metabolism Disorder of purine metabolism Disorder of pyrimidine metabolism Hereditary orotic[icd9data.com]

  • Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency

    Then seven chapters review the factors responsible for the human "disease" produced by uric acid in the joints and kidneys.[books.google.com] In this subject, hepatic xanthine oxidase activity showed a twelve-fold increase.[ncbi.nlm.nih.gov] Abstract Mutant hypoxanthine-guanine phosphoribosyltransferase from four patients with a partial deficiency of this enzyme has been studied by isoelectric focusing.[ncbi.nlm.nih.gov] […] deficiency Dihydrouracil dehydrogenase deficiency Disorder of purine and pyrimidine metabolism Disorder of purine metabolism Disorder of pyrimidine metabolism Hereditary orotic[icd9data.com]

  • Purine-Nucleoside Phosphorylase Deficiency

    The possible cause of the slight increase in urinary orotic acid in our patient has been discussed.[ncbi.nlm.nih.gov] Kinase activity towards deoxyguanosine was significantly higher in T-cells, whereas NP activity was similar in both B- and T-cells.[biochemj.org] The erythrocytes with 0.07% of normal purine nucleoside phosphorylase activity resembled erythrocytes with hypoxanthine-guanine phosphoribosyltransferase deficiency by having[ncbi.nlm.nih.gov] […] depletion was noted in the erythrocytes of all surviving homozygotes and was of equivalent magnitude to that found in the Lesch-Nyhan syndrome (complete hypoxanthine-guanine phosphoribosyltransferase[ncbi.nlm.nih.gov]

  • Xanthinuria

    In each of them, maternal serum uric acid (SUA) level rose progressively during the third trimester, reaching a subnormal value just before delivery.[ncbi.nlm.nih.gov] Xanthine oxidase activity was virtually absent in the patients' duodenal mucosa, a finding that established the diagnosis of hereditary xanthinuria.[ncbi.nlm.nih.gov] Hypoxanthine does not accumulate to an appreciable degree because it is recycled through a salvage pathway by the enzyme hypoxanthine guanine phosphoribosyltransferase (HGPRT[emedicine.medscape.com] […] deficiency Dihydrouracil dehydrogenase deficiency Disorder of purine and pyrimidine metabolism Disorder of purine metabolism Disorder of pyrimidine metabolism Hereditary orotic[icd9data.com]

  • Adenine Phosphoribosyl Transferase Deficiency

    Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel.[icdlist.com] […] half the normal activity in the patients.[ncbi.nlm.nih.gov] Abstract Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive disorder manifesting as urolithiasis or crystalline nephropathy.[ncbi.nlm.nih.gov] […] deficiency Dihydrouracil dehydrogenase deficiency Disorder of purine and pyrimidine metabolism Disorder of purine metabolism Disorder of pyrimidine metabolism Hereditary orotic[icd9data.com]

  • Hereditary Orotic Aciduria without Megaloblastic Anemia

    […] yielded increased levels of both orotic acid and oritidine.[symptoma.com] The ratio of OPRT activity to ODC activity does not differ from the wild-type enzyme, and percentages of residual enzyme activity are equal for both subunits.[symptoma.com] In OAWA, the N-terminal domain of the protein, which corresponds to orotate phosphoribosyltransferase (OPRT), may remain functional, while the activity of the C-terminal subunit[symptoma.com] For comparison: Patients diagnosed with classical orotic aciduria had orotate-to-orotidine ratios of 29-590.[symptoma.com]

  • Influenza

    The most important amino acid factor (Factor 3) and the minimal range of signature positions (50 amino acid residues) were explored by a supporting vector machine (the highest-performing[ncbi.nlm.nih.gov] Seasonal influenza activity in the Southern Hemisphere was low overall, with influenza A(H1N1)pdm09 predominating in many regions.[ncbi.nlm.nih.gov] Role of Human Hypoxanthine Guanine Phosphoribosyltransferase in Activation of the Antiviral Agent T-705 (favipiravir). doi:10.1124/mol.113.087247.[ncbi.nlm.nih.gov] Nationally, ILI activity began increasing in November, reaching an extended period of high activity during January-February, and remaining elevated through March.[ncbi.nlm.nih.gov]

    Missing: orotic