| Literature DB >> 6714986 |
H Fujii, S Miwa, S Takegawa, K Takahashi, A Hirono, T Takizawa, T Morisaki, H Kanno, T Taguchi, J Okamura.
Abstract
Two new glucose-6-phosphate dehydrogenase (G6PD) variants were discovered in Japan. The first, found in a 9-year-old male, was associated with chronic hemolysis and hemolytic crises after upper respiratory infections. The enzyme activity of the variant was 2.9% of normal. The patient's G6PD showed an increased utilization of substrate analogue, deamino-NADP, and thermal instability. The second variant occurred in a 7-year-old male with drug-induced hemolysis. The main enzymatic characteristics were reduced enzyme activity, being 6.4% of normal, faster-than-normal anodal electrophoretic mobility, slightly high Michaelis constant for glucose-6-phosphate, thermal instability, and biphasic pH optima. Enzymatic properties of these variants allowed each to be distinguished from previously reported variants. The first variant was designated Gd(-)Gifu and the other, Gd(-)Fukuoka.Entities:
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Year: 1984 PMID: 6714986 DOI: 10.1007/bf00286616
Source DB: PubMed Journal: Hum Genet ISSN: 0340-6717 Impact factor: 4.132