Enzyme related : Galactose 1 Phosphate uridyl transferase deffeciency - classical Galactosemia Galactokinase UDP Hexose 4 epimerase will also result in Galactosemia Galactose 1 phosphates deposition in Kidney liver and brain. Symptoms : Hepatomegaly,mental retardation, Seizures and Jaundice. Galctose 1 phosphate inhibits Glycogen phosphrylase leads to Hypoglycemia. Bilateral Oil drop Cataract - Classical symptom ( Galactose concert into Galactitol via polyol pathway and deposited in lens) Test : Benedict+ ve GOD/POD - ve Treatment: Avoid lactose and breast milk free diet.
