Description
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.
Indications
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.
Sample Type, Quantity & Conditions
Blood Spots on Filter Paper Card
Special Precautions
Blood collected by heel prick or venous puncture taken on the third day of life but not older than 14 days.
Normal Range
> 3.0 U/g Hb