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Yellow color marked pathway is the pentose phosphate pathway; the number in parenthesis is the gene copy found in the genome; GalK: galactokinase (EC 2.71.6); GalE: UDP-glucose 4-epimerase (EC; GalT: UDP-glucose-hexose-1-phosphate uridylyltransferase (EC; GalU: UTP-glucose-1- phosphate uridylyltransferase (EC 2.7.79); PGM: phosphoglucomutase (EC; XI: xylose isomerase (EC; XK: xylulokinase (EC 2.71.17); AI: arabinose isomerase (EC; RK: ribulokinase (EC 2.71.16); RI: ribose 5-phosphate isomerase (EC; RPE: ribulose-phosphate 3-epimerase (EC; TKL: transketolase (EC; TAL: transaldolase (EC
Patients with GALT and galactokinase deficiency are followed up with measurements of erythrocyte galactose-1-phosphate levels and urinary galactitol levels (23).
Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose1-phosphate uridylyltransferase and galactokinase deficiencies.
These data have to be compared with the clinical observation, before neonatal screening, in our IMD clinic where, during approximately 25 years, there had only been 2 cases apparently with the classic form of galactosemia, in comparison to 11 cases of galactokinase deficiency (Casco et al.
Galactose is then further metabolized and is converted to glucose with the help of three enzymes present on the red blood cells: galactokinase, 1-phosphate uridyl transferase, and uridine diphosphoglucose 4 epimerase.
Jacques has now compared levels of this enzyme, called galactokinase, with dairy food consumption in 106 persons aged 40 to 70 - 73 of them with cataracts.
Gal-1-P is formed in the Leloir pathwayvia galactokinase and cannot be metabolized further, owing to diminished GALT activity.
Galactokinase (GALK) converts galactose to galactose 1-phosphate.
Three enzymes responsible for galactosemia have been identified: galactokinase (GALK [5]; EC, galactose-1-phosphate uridyltransferase (GALT; EC, and uridine diphosphate (UDP)-galactose-4-epimerase (GALE; EC (1-3).