Prevention is better than Treatment


Galactosemia is a disorder caused by an inborn error of galactose metabolism.  The rate of incidence is approximately 1 in 50,000 newborns worldwide.1  Galactosemia is an autosomal recessive disorder that is characterized by elevated concentrations of galactose in the blood resulting from the absence or dysfunction of any of the three enzymes responsible for the transformation of galactose to glucose, i.e., D-galactose-1-phosphotransferase (EC, a-D-galactose-1-phosphate-uridyltransferase (EC or UDP-glucose-4-epimerase (EC  The symptoms associated with Galactosemia in the newborn period can include vomiting, diarrhea, dehydration, jaundice, hepatic failure, hypoglycemia, cataracts, and developmental retardation.3  Sepsis due to Escherichia coli has  frequently been the cause of death in neonates diagnosed with Galactosemia.4  The increased circulating concentrations of galactose, if left untreated, can result in a variety of symptoms including metabolic cirrhosis of the liver, mental retardation, cataract formation, and kidney damage. Treatment consists of removal of galactose and its major precursor, lactose, from the diets of affected individuals.  This galactose-free diet should be initiated as early as possible and maintained throughout life.5

  1. Levy, H.L. and G. Hammersen.  1978  J. Pediatrics  92(6):871-877.
  2. Diepenbrock, F., Heckler, R., Schickling, H., Engelhard, T., Bock, D. and J. Sander.  1992  Clin. Biochem.  25:37-39.
  3. DeClue, T.J., Malone, J.I. and T.A. Tedesco.  1991  J. Florida M. A.  78(6):369-371.
  4. Levy, H.L., Levy, M.D., Sepe, S.J., Shih, V.E., Vawter, G.F. and J.O. Klein.  1977  N. Engl. J. Med.  297(15):823-825.
  5. Mason, G.A., Summer, G.K., Dutton, H.H. and R.C. Schwaner.  1977  Clin. Chem.  23(6):971-974.


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