Purine and phosphoribosylpyrophosphate metabolism of lymphocytes and erythrocytes of an adenosine deaminase deficient immunocompetent child. 1979

G H Reem, and W Borkowsky, and R Hirschhorn

Purine metabolism and phosphoribosylpyrophosphate content of lymphocytes and erythrocytes were studied in an immunocompetent black male child with a total deficiency of erythrocyte and partial deficiency of lymphocyte adenosine deaminase. The partial genetic deficiency of adenosine deaminase was demonstrated in intact lymphocytes, and was approximately one third of the deaminating activity of control lymphocytes. Intact lymphocytes of the patient did not incorporate adenosine at a faster rate than those of control lymphocytes. The patient's erythrocytes deaminating activity was low and adenine ribonucleotide synthesis from adenosine was increased several fold, while adenine incorporation into purine ribonucleotides was comparable to that of control erythrocytes. Transfusion with packed erythrocytes temporarily improved the deaminating capacity of circulating erythrocytes, but did not reduce the elevated incorporation of adenosine into purine ribonucleotides. Phosphoribosylpyrophosphate content of the patient's lymphocytes and erythrocytes was not diminished. Incubation of erythrocytes with adenosine lowered phosphoribosylpyrophosphate content while incubation with phosphate increased phosphoribosylpyrophosphate content to the same extent in mutant and control erythrocytes.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008214 Lymphocytes White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each), or NATURAL KILLER CELLS. Lymphoid Cells,Cell, Lymphoid,Cells, Lymphoid,Lymphocyte,Lymphoid Cell
D008297 Male Males
D009700 Nucleoside Deaminases Catalyze the hydrolysis of nucleosides with the elimination of ammonia. Deaminases, Nucleoside
D010754 Phosphoribosyl Pyrophosphate The key substance in the biosynthesis of histidine, tryptophan, and purine and pyrimidine nucleotides. Pyrophosphate, Phosphoribosyl
D004912 Erythrocytes Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN. Blood Cells, Red,Blood Corpuscles, Red,Red Blood Cells,Red Blood Corpuscles,Blood Cell, Red,Blood Corpuscle, Red,Erythrocyte,Red Blood Cell,Red Blood Corpuscle
D006147 Guanine
D006150 Guanine Nucleotides Guanine Nucleotide,Guanosine Phosphates,Nucleotide, Guanine,Nucleotides, Guanine,Phosphates, Guanosine
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000227 Adenine Nucleotides Adenine Nucleotide,Adenosine Phosphate,Adenosine Phosphates,Nucleotide, Adenine,Nucleotides, Adenine,Phosphate, Adenosine,Phosphates, Adenosine

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