Galactose 1-Phosphate Uridyltransferase (GALT)

Classical galactosaemia is an autosomal recessive disorder of galactose metabolism caused by a deficiency of galactose-1-Phosphate Uridyltransferase, the second enzyme of the Leloir pathway. Most patients present in the neonatal period after ingestion of galactose with icterus, hepatosplenomegaly, liver failure, food intolerance, hypoglycaemia, renal failure, muscle hypotonia, sepsis, cataract, and mental retardation. The condition is treated by removal of galactose and lactose from the diet.

This test is useful in the differential diagnosis of galactosaemia. Galactose-1-phosphate Uridyltransferase defects result in type I galactosaemia or classic galactosaemia. Clinical manifestations include intellectual retardation, liver dysfunction, and cataract formation.

4 ml EDTA Blood Room Temperature

Transfusion may result in a false-negative result.

Normal: > 3.0 U/g Hb