A simple screening procedure for adenylate kinase, hexokinase and glucose-6-phosphate dehydrogenase deficiencies.
A simple screening procedure for the detection of adenilate kinase (AK), hexokinase (Hx) or glucose-6-phosphate dehydrogenase (G6PD) deficiencies in blood, is described. It consists of two assays : in the first, the ATP formed by blood AK is coupled to Hx and G6PD, and in the second, the glucose-6-phosphate formed by blood Hx is coupled to G6PD. The enzyme activities are visually estimated by the reduction of NADP+ (non-fluorescent) to NADH (fluorescent). The appearance of fluorescence in the first assay indicates that the three enzyme activities are present. The absence of fluorescence could be due to the deficiency of any one of the three enzymes; in this case the second assay used in combination with the Beutler's screening test for G6PD permits the detection of the specific enzymatic deficiency.
D000263:Adenylate Kinase / Q000097:blood / Q000172:deficiency*; D000743:Anemia, Hemolytic / Q000201:enzymology / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis*; D006593:Hexokinase / Q000097:blood / Q000172:deficiency*; D006801:Humans; D008722:Methods; D010770:Phosphotransferases / Q000172:deficiency*
D010770:Phosphotransferases; D006593:Hexokinase; D000263:Adenylate Kinase