Molecular basis of Japanese variants of pyrimidine 5′-nucleotidase deficiency
✍ Scribed by Hitoshi Kanno; Takenori Takizawa; Shiro Miwa; Hisaichi Fujii
- Book ID
- 108672713
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 168 KB
- Volume
- 126
- Category
- Article
- ISSN
- 0007-1048
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## Introduction. Erythrocyte pyrimidine 5'-nucleotidase (5"ribonucleotide phosphohydrolase EC 3.1.3.5, P5N) deficiency associated with hereditary nonspherocytic hemolytic anemia was first described by Valentine et al. (1974). We now report three female cases with this deficiency found in a Japanes
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 monophosph
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