Classic Galactosemia

The symptoms found in the first week of life for an infant can be jaundice, irritability, vomiting, poor weight gain, feeding difficulties, lethargy, dehydration, diarrhea, and convulsions. That is not all susceptibility to E. coli sepsis is possible which has a sixty percent mortality rate. (1).
             Galactosemia can affect several parts of the body. The disorder can cause cirrhosis of the liver, cataracts in the eyes, severe infection in the blood (E. coli sepsis), delayed speech development, severe mental retardation. Galactosemia can also cause irregular menstrual cycles, decreased function of ovaries, which could lead to ovarian failure. There is also tremors and uncontrollable motor functions, and if untreated Death. (2).
             The GALT gene is the only gene known to be associated with the classic signs of galactosemia. This gene provides instructions for making enzymes that are essential for processing galactose obtained by the body from the diet. These enzymes breakdown galactose into glucose 1 phosphate, that is important for energy production. (6).
             When the GALT gene encounters mutations this causes classic galactosemia (type 1). The genetic changes cause the GALT genes enzymes activity to be null and void. The GALT gene is then unable to oxidize galactose to CO2. (9).
             The activity of galactose-1-phosphate uridytransferase(GALT) enzyme is it first converts UDP-glucose to glucose-1-P. The intermediate UMPGALT is the formed and the second reaction binds galatose-1-P and releases UDP-galactose. The whole reaction is limited to the rate of production in uryldylated hexoses for post-translational modification of glycoprotein and glycolipids. (6).
             When there is a deficiency of activity in GALT enzymes, galactose-1-P and galactose accumulate. Galactose -1-P competes with the UTP-dependent glucose-1-P pysophosphorylase to reduce UDP-glucose production. Galactose is converted to gelation in cells and osmotic affects such as swelling of lens fibers that can result in cataracts, and swelling of neurons that can produce pseudo tumor cerbei which can cause motor functions difficulties.