Red blood cell sorbitol dehydrogenase deficiency in a family with cataracts
✍ Scribed by G. Vaca; B. Ibarra; M. Bracamontes; D. García-Cruz; J. Sánchez-Corona; C. Medina; C. Wunsch; G. González-Quiroga; J. M. Cantú
- Publisher
- Springer
- Year
- 1982
- Tongue
- English
- Weight
- 314 KB
- Volume
- 61
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
A family with partial deficiency of erythrocytic 6PGD is described. Biochemical and electrophoretic analysis suggest that the partial deficiency is due to a silent PGD0 allele. Chromosomal analysis and assay of closely linked markers do not reveal a grossly detectable deletion.
The red blood cell glucose-6-phosphate dehydrogenase (G6PD) activity of every donor was examined with automatic enzyme-coupled method. The technique of molecular biology was applied to determine the DNA mutations for the 97 donors with undetectable G6PD activity. The concentration of reduced glutath
Clinical and metabolic studies were performed in four members of a Spanish family with partial (50%) 6 phosphogluconate dehydrogenase (6PGD) deficiency. In all cases the activities of 6 phosphogluconolactone (6PGL) and glutathione reductase (GR) were normal, and the molecular characterization perfor