Three glucose 6-phosphate dehydrogenase variants found in Japan

✍ Scribed by Shiro Miwa; Koji Nakashima; Junichiro Ono; Hisaichi Fujii; Eitaro Suzuki

• Publisher: Springer
• Year: 1977
• Tongue: English
• Weight: 430 KB
• Volume: 36
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00446284

✦ Synopsis

Three Japanese glucose 6-phosphate dehydrogenase (G6PD) variants were investigated. G6PD 'Mediterranean-like' had markedly decreased activity, normal electrophoretic mobility, low Km G6P, low Km NADP, increased utilization of all three substrate analogues (2-deoxy-G6P, Gal-6P, and deamino-NADP) and slightly decreased heat stability and slightly biphasic pH curve. G6PD 'Ogori' had markedly decreased activity, but otherwise normal characteristics. G6PD 'Hofu' had moderately decreased activity, normal electrophoretic mobility, slightly reduced Km G6P, normal Km NADP, normal utilization of 2-deoxy-G6P and Gal-6P, but increased utilization of deamino-NADP and normal heat stability as well as normal pH curve.

Glucose 6-phosphate dehydrogenase (D-glucose 6-phosphate: NADP oxidoreductase, E.C. 1. I. 1.49, G6PD) deficiency appears to be rare in Japan and only a few reports on G6PD variants have been issued (Kojima, 1972;Nakai and Yoshida, 1974;Miwa et al., 1976;Nakashima et al., 1977).

We now report three G6PD variants, which are designated G6PD 'Mediterranean-like,' 'Ogori,' and 'Hofu.' The last was asymptomatic with moderately reduced activity, while the first two had episodes of acute hemolysis, but were otherwise healthy with markedly reduced activity.