Publication Date

Spring 4-14-2014


School of Health Sciences


Biochemistry and Molecular Biology


Galactosemia, GALT, Pathogenesis, Galactose, Metabolism


Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Diseases | Medicine and Health Sciences | Nutritional and Metabolic Diseases


All living organisms depend on the metabolism of carbohydrates for energy and the biosynthesis of necessary glycoconjugates. One of these carbohydrates is the monosaccharide galactose. Galactose is metabolized by humans through the Leloir pathway of galactose metabolism, which contains three enzymes to modify galactose so that it can be incorporated into glycolysis for the production of cellular energy. The middle enzyme of this pathway, galactose-1-phosphate uridyltransferase, produces uridine diphosphogalactose (UDP-gal) from galactose-1-phosphate (gal-1P), and a deficiency of this enzyme results in the human disease galactosemia. Galactosemia is diagnosed soon after an infant begins feeding, and although a galactose-restricted diet eliminates immediate acute symptoms, long-term complications typically persist. The exact mechanism of galactosemia pathogenesis is not currently understood, but research is being performed concerning the possible involvement of the unfolded protein response (UPR), human inositol monophosphatase (hIMPase), and abnormal glycan composition of enzymes, hormones, and growth factors. Future research of GALT and galactosemia will aim to better understand the pathogenesis of galactosemia with hopes of a more effective treatment to decrease long-term complications of the disease.