[Biochemical characterization of a new variant of glucose-6-phosphate dehydrogenase (G-6-PD) deficiency with favism: G-6-PD Bielefeld (author's transl)].
A new variant of G-6-PD with favism has been detected in a German family. After partial purification the enzyme was biochemically characterized. It revealed normal electrophoretic mobility, normal thermostability and a flat pH-activity curve. The Km-value for G-6-P was reduced, whereas this value was normal for NADP. The substrate analogues 2-desoxy G-6-P, Gal-6-p and deamino-NADP were utilized to increased rates. The biochemical data were compatible with the benign clinical course.
D000328:Adult; D055598:Chemical Phenomena; D002627:Chemistry, Physical; D003937:Diagnosis, Differential; D004355:Drug Stability; D004592:Electrophoresis, Starch Gel; D005236:Favism / Q000201:enzymology*; D014644:Genetic Variation; D005860:Germany, West; D005954:Glucosephosphate Dehydrogenase / Q000032:analysis; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000201:enzymology*; D006358:Hot Temperature; D006801:Humans; D007700:Kinetics; D008297:Male
D005954:Glucosephosphate Dehydrogenase
Biochemische Eigenschaften einer neuen Variante des Glucose-6-phosphatdehydrogenase (G-6-PD)-Mangels mit Favismus: G-6-PD Bielefeld