What is Galactosaemia?
Galactosaemia literally means ‘galactose in the blood’. Galactose is a sugar which mainly comes from lactose, the sugar found in milks. Lactose is normally broken down into the two simple sugars, galactose and glucose. The galactose is then broken down further and used in many parts of the body including the brain. In galactosaemia it cannot be broken down completely and used because of deficiency or absence of an enzyme, galactose-1-phosphate uridyl transferase or Gal-1-PUT. Galactose, galactose-1-phosphate and other harmful chemicals build up and lead to the serious illness that occurs in the first few weeks of life once the baby is fed on milk containing lactose. It is a lifelong condition.