scholarly journals Purine metabolism in cultured human fibroblasts derived from patients deficient in hypoxanthine phosphoribosyltransferase, purine nucleoside phosphorylase, or adenosine deaminase.

1978 ◽  
Vol 75 (8) ◽  
pp. 3722-3726 ◽  
Author(s):  
L. F. Thompson ◽  
R. C. Willis ◽  
J. W. Stoop ◽  
J. E. Seegmiller
Keyword(s):  
Adenosine Deaminase ◽  
Purine Nucleoside Phosphorylase ◽  
Human Fibroblasts ◽  
Purine Metabolism ◽  
Purine Nucleoside ◽  
Hypoxanthine Phosphoribosyltransferase ◽  
Nucleoside Phosphorylase ◽  
Cultured Human Fibroblasts

Purine Metabolism and Immunodeficiency: Urinary Purine Excretion as a Diagnostic Screening Test in Adenosine Deaminase and Purine Nucleoside Phosphorylase Deficiency

1978 ◽  
Vol 54 (5) ◽  
pp. 579-584 ◽  
Author(s):  
H. Anne Simmonds ◽  
A. Sahota ◽  
Catherine F. Potter ◽  
J. S. Cameron
Keyword(s):  
Adenosine Deaminase ◽  
Purine Nucleoside Phosphorylase ◽  
Inhibitory Effect ◽  
Purine Metabolism ◽  
Purine Nucleoside ◽  
Adenosine Deaminase Deficiency ◽  
Adenine Phosphoribosyltransferase ◽  
Nucleoside Phosphorylase ◽  
Adenine Phosphoribosyltransferase Deficiency ◽  
Purine Nucleoside Phosphorylase Deficiency

1. We have compared urinary purine excretion by two different methods in three separate paediatric disorders of purine metabolism: purine nucleoside phosphorylase deficiency, adenosine deaminase deficiency and adenine phosphoribosyltransferase deficiency. 2. The abnormal purines identified in each case were specific for the defect and directly related to it: adenine in adenine phophoribosyltransferase deficiency; the abnormal nucleosides inosine, guanosine and their corresponding deoxyribosides in purine nucleoside phosphorylase deficiency; deoxyadenosine in adenosine deaminase deficiency, the latter having previously been identified erroneously as adenine after degradation in the acidic conditions used. 3. Deoxyriboside excretion was specific for the two defects associated with immunodeficiency; adenine for adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadenine urolithiasis. The results obtained by a quantitative method were reflected in a simple rapid qualitative technique, isotachophoresis of the urine. 4. Purine overexcretion (principally inosine) was evident only in purine nucleoside phosphorylase deficiency, which emphasizes the importance of hypoxanthine salvage for the overall control of purine production in man. In none of these disorders was any inhibition of pyrimidine biosynthesis as reflected by oroticaciduria noted. Orotic acid excretion was within normal limits in all cases. 5. From these results it is suggested that the associated immunodeficiency in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency relates directly to the intracellular accumulation of 2′-deoxyribosides and not indirectly to an inhibitory effect on pyrimidine metabolism.

Use of induced pluripotent stem cells to investigate the effects of purine nucleoside phosphorylase deficiency on neuronal development

2018 ◽  
Vol 5 (2) ◽  
pp. 49-56
Author(s):  
Michael Tsui ◽  
Jeremy Biro ◽  
Jonathan Chan ◽  
Weixian Min ◽  
Eyal Grunebaum
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Purine Nucleoside Phosphorylase ◽  
Neuronal Development ◽  
Neuronal Cells ◽  
Purine Metabolism ◽  
Purine Nucleoside ◽  
Nucleoside Phosphorylase ◽  
Induced Pluripotent

Background: Inherited defects in the function of the purine nucleoside phosphorylase (PNP) enzyme can cause severe T cell immune deficiency and early death from infection, autoimmunity, or malignancy. In addition, more than 50% of patients suffer diverse non-infectious neurological complications. However the cause for the neurological abnormalities are not known. Objectives: Differentiate induced pluripotent stem cells (iPSC) from PNP-deficient patients into neuronal cells to better understand the effects of impaired purine metabolism on neuronal development. Methods: Sendai virus was used to generate pluripotent stem cells from PNP-deficient and healthy control lymphoblastoid cells. Cells were differentiated into neuronal cells through the formation of embryoid bodies. Results: After demonstration of pluripotency, normal karyotype, and retention of the PNP deficiency state, iPSC were differentiated into neuronal cells. PNP-deficient neuronal cells had reduced soma and nuclei size in comparison to cells derived from healthy controls. Spontaneous apoptosis, determined by Caspase-3 expression, was increased in PNP-deficient cells. Conclusions: iPSC from PNP-deficient patients can be differentiated into neuronal cells, thereby providing an important tool to study the effects of impaired purine metabolism on neuronal development and potential treatments. Statement of novelty: We report here the first generation and use of neuronal cells derived from induced pluripotent stem cells to model human PNP deficiency, thereby providing an important tool for better understanding and management of this condition.

Purine Metabolic Enzymes in Lymphocytes: II. Adenosine Deaminase and Purine Nucleoside Phosphorylase Activities in the Immune Responses

1982 ◽  
Vol 26 (1) ◽  
pp. 87-92 ◽  
Author(s):  
Satonori Kurashige ◽  
Yuki Akuzawa ◽  
Toshiharu Yoshida ◽  
Chisato Teshima ◽  
Kazue Kodama ◽  
...  
Keyword(s):  
Immune Responses ◽  
Adenosine Deaminase ◽  
Purine Nucleoside Phosphorylase ◽  
Metabolic Enzymes ◽  
Purine Nucleoside ◽  
Nucleoside Phosphorylase

Erythrocyte adenosine deaminase and purine nucleoside phosphorylase activity in gout

1975 ◽  
Vol 58 (3) ◽  
pp. 277-282 ◽  
Author(s):  
Tsuneo Nishizawa ◽  
Yutaro Nishida ◽  
Ieo Akaoka ◽  
Takashi Yoshimura
Keyword(s):  
Adenosine Deaminase ◽  
Purine Nucleoside Phosphorylase ◽  
Purine Nucleoside ◽  
Phosphorylase Activity ◽  
Nucleoside Phosphorylase
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