Galactosemia is an autosomal recessive disorder resulting from the deficiency of any of the three enzymes required for galactose metabolism. Galactosemia due to deficiency of Galactose- 1- phosphate uridyl transferase (GALT) is the commonest cause and is called Classical Galactosemia. Duarte variant galactosemia is generally associated with higher levels of enzyme activity (5-20%) than Classical galactosemia (<5%). In patients with Galactosemia, elevated plasma galactose levels may suggest ineffective dietary restriction or compliance. Increased concentrations of galactose may also be suggestive of severe hepatitis, biliary atresia of the newborn and galactose intolerance.

  • Test Type:
  • Pre-test Information:
    Avoid sample collection for 60 days post transfusion
  • Report Delivery:
    Sample Daily by 4 pm; Report 5 days
  • Components:

Sample Report