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A screening test for phosphoglycerate kinase deficiency. 1981

G Vaca, and C Wunsch, and C Medina, and D Garcia-Cruz, and J Sanchez-Corona, and J M Cantu

A simple screening test for the detection of X-linked recessive phosphoglycerate kinase (PGK) deficiency in blood is described. It is based on the conversion of 3-phosphoglycerate to 1,3-diphosphoglycerate catalyzed by the PGK whose activity is visually estimated by the oxidation of NADH (fluorescent) to NAD+ (non-fluorescent) in a coupled reaction with the enzyme glyceraldehyde 3-phosphate dehydrogenase. The disappearance of fluorescence indicates PGK activity in the sample, while the contrary could be due to PGK deficiency. The utility of this test for the study of males with hereditary hemolytic anemia is stressed.

UI MeSH Term Description Entries
D010735 Phosphoglycerate Kinase An enzyme catalyzing the transfer of a phosphate group from 3-phospho-D-glycerate in the presence of ATP to yield 3-phospho-D-glyceroyl phosphate and ADP. EC 2.7.2.3. Kinase, Phosphoglycerate
D005453 Fluorescence The property of emitting radiation while being irradiated. The radiation emitted is usually of longer wavelength than that incident or absorbed, e.g., a substance can be irradiated with invisible radiation and emit visible light. X-ray fluorescence is used in diagnosis.
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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