PMID: 908567Sep 22, 1977

Electrophoretic and kinetic studies of human erythrocytes deficient in pyrimidine 5'-nucleotidase

Human Genetics
R RosaJ Rosa

Abstract

A new case of a defect in red cell pyrimidine 5'-nucleotide (P5N) activity was found in a large family from Guadeloupe in the West Indies. The propositus presented a characteristic hemolytic anemia with red cell basophilic stippling, an increased GSH level, and a shift of the peak in absorbance of nucleotide. The enzyme activity from the deficient red cells differed from that of the normal. The P5N activity of the deficient red cells was about 14% that of normal. The electrophoretic pattern of P5N activity of the deficient red cells was distinct from that of the control in terms of its Km and of the effects of pH on its maximum activity and heat stability. The significance of such differences is discussed.

References

Aug 15, 1977·Clinica Chimica Acta; International Journal of Clinical Chemistry·R RosaJ Rosa
Oct 1, 1974·The Journal of Clinical Investigation·W N ValentineW S Adams

Related Concepts

Anemia, Hemolytic, Congenital
Electrophoresis
Erythrocytes
Nucleotidases
Genealogical Tree
Pyrimidine Nucleotides

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