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Literature DB >> 406278

Orotic aciduria in two unrelated patients with inherited deficiencies of purine nucleoside phosphorylase.

A Cohen, G E Staal, A J Ammann, D W Martin.

Abstract

The urines of two unrelated children with inherited deficiencies of purine nucleoside phosphorylase have been found to contain significant quantities of orotic acid in addition to the previously reported purine nucleosides. The data are consistent with some cell types of these immunodeficient patients being deplete of pyrophosphoribosylphosphate, a precursor of both purine, and pyrimidine nucleosides. It is suggested that the pyrophosphoribosyl-phosphate-depleted cells may be some component of the thymus-dependent immune system.

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 1977 PMID： 406278 PMCID： PMC372392 DOI： 10.1172/JCI108800

Source DB: PubMed Journal: J Clin Invest ISSN： 0021-9738 Impact factor: 14.808

13 in total

1. The adenosine-like effect of exogenous cyclic AMP upon nucleotide and PP-ribose-P concentrations of cultured human lymphoblasts.

Authors: F F Snyder; J E Seegmiller
Journal: FEBS Lett Date: 1976-07-01 Impact factor: 4.124

2. Adenosine inhibition of lymphocyte-mediated cytolysis: possible role of cyclic adenosine monophosphate.

Authors: G Wolberg; T P Zimmerman; K Hiemstra; M Winston; L C Chu
Journal: Science Date: 1975-03-14 Impact factor: 47.728

3. Characterization of a feedback-resistant phosphoribosylpyrophosphate synthetase from cultured, mutagenized hepatoma cells that overproduce purines.

Authors: C D Green; D W Martin
Journal: Proc Natl Acad Sci U S A Date: 1973-12 Impact factor: 11.205

4. Hypouricemic, mentally retarded infant with a defect of 5-phosphoribosyl-1-pyrophosphate synthetase of erythrocytes.

Authors: Y Wada; Y Nishimura; M Tanabu; Y Yoshimura; K Iinuma
Journal: Tohoku J Exp Med Date: 1974-06 Impact factor: 1.848

5. An abnormal form of purine nucleoside phosphorylase in a family with a child with severe defective T-cell-and normal B-cell immunity.

Authors: L H van Heukelom; G E Staal; J W Stoop; B J Zegers
Journal: Clin Chim Acta Date: 1976-10-01 Impact factor: 3.786

6. Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase.

Authors: A Cohen; D Doyle; D W Martin; A J Ammann
Journal: N Engl J Med Date: 1976-12-23 Impact factor: 91.245

7. Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity.

Authors: E R Giblett; A J Ammann; D W Wara; R Sandman; L K Diamond
Journal: Lancet Date: 1975-05-03 Impact factor: 79.321

8. Characterization of a cell culture model for the study of adenosine deaminase- and purine nucleoside phosphorylase-deficient immunologic disease.

Authors: B Ullman; A Cohen; D W Martin
Journal: Cell Date: 1976-10 Impact factor: 41.582

9. Pyrimidine starvation induced by adenosine in fibroblasts and lymphoid cells: role of adenosine deaminase.

Authors: H Green; T Chan
Journal: Science Date: 1973-11-23 Impact factor: 47.728

10. Lethality of adenosine for cultured mammalian cells by interference with pyrimidine biosynthesis.

Authors: K Ishii; H Green
Journal: J Cell Sci Date: 1973-09 Impact factor: 5.285

6 in total

1. Deoxyguanosine triphosphate as a possible toxic metabolite in the immunodeficiency associated with purine nucleoside phosphorylase deficiency.

Authors: A Cohen; L J Gudas; A J Ammann; G E Staal; D W Martin
Journal: J Clin Invest Date: 1978-05 Impact factor: 14.808