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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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A simple screening procedure for glucose phosphate isomerase, phosphofructokinase, aldolase and glyceraldehyde-3-phosphate dehydrogenase deficiencies.

A simple screening procedure for the detection of glucose-phosphate isomerase ( GPI), phosphofructokinase ( PFK), aldolase (AL) and glyceraldehyde-3-phosphate dehydrogenase (GAPD) deficiencies in blood, is described. These enzymes catalyze the second, third, fourth, and sixth reactions in the Embden-Meyerhof pathway. The procedure is based on the conversion of glucose-6-phosphate to 1,3-diphosphoglycerate (1,3-DPG) which is catalyzed by the sequential action of the GPI, PFK, AL and GAPD. The presence of the enzyme activities is visually estimated by the reduction of NAD+ (non-fluorescent) to NADH (fluorescent) which occurs when 1,3-DPG is formed. Absence of fluorescence indicates the deficiency of anyone of the four enzymes, which are specified by using separately the PFK, AL and GAPD respective substrates.[1]

References

  1. A simple screening procedure for glucose phosphate isomerase, phosphofructokinase, aldolase and glyceraldehyde-3-phosphate dehydrogenase deficiencies. Vaca, G., Medina, C., Wunsch, C., Garcia-Cruz, D., Sanchez-Corona, J., Gonzalez-Quiroga, G., Cantu, J.M. Ann. Genet. (1981) [Pubmed]
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