Galactosaemia is a genetic condition that affects how the body processes and breaks down simple sugars such as galactose. Patients with galactosemia usually present with an abnormally low amount the enzyme galactose-1-phosphate uridylyltransferase (GALT). The enzyme GALT is very critical in galactose metabolism.
The low deficiency of GALT enzyme is as a result of a mutation in the GALT gene. This leads to a deficiency of the GALT enzymes, which ultimately leads to an abnormal accumulation of galactose-related chemicals.