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Kinetic and electrophoretic studies of human erythrocytes deficient in pyrimidine 5′-nucleotidase

✍ Scribed by Kenji Shinohara; Kouichi R. Tanaka

Publisher
Springer
Year
1979
Tongue
English
Weight
292 KB
Volume
51
Category
Article
ISSN
0340-6717

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✦ Synopsis

The mutant enzyme of a patient with hereditary pyrimidine 5'-nucleotidase deficiency was analyzed biochemically. Partially purified by DEAE-Sephadex and concentrated by ultrafiltration, the enzyme had a high Km for the substrate uridine monophosphate. Utilization of the substrate cytidine monophosphate was normal, but utilization of adenosine monophosphate was greatly increased. The enzyme was stable to heat; the pH optimum was acidic. Electrophoresis of the enzyme revealed a very faint, slower than normal band.

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Electrophoretic and kinetic studies of h
Electrophoretic and kinetic studies of human erythrocytes deficient in pyrimidine 5′-nucleotidase
✍ Raymonde Rosa; Henri Rochant; Bernard Dreyfus; Colette Valentin; Jean Rosa 📂 Article 📅 1977 🏛 Springer 🌐 English ⚖ 418 KB

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 n