What is Enzyme defect in galactosemia and explain in detail?
Galactosemia 1. There is deficiency of enzyme galactose-1phosphate uridyl transferase. It is an inborn error of metabolism. The incidence is 1 in 35,000 bihs. Hermann Kalckar described it in 1958. 2. Due to the block in this enzyme, galactose-1phosphate will accumulate in liver. This will inhibit galactokinase as well as glycogen phosphorylase. Hypoglycemia is the result (Box 10.4). 3. Bilirubin uptake is less and bilirubin conjugation is reduced; so unconjugated bilirubin level is increased in blood (for bilirubin, see Chapter 21). 4. There is enlargement of liver, jaundice and severe mental retardation. 5. Free galactose accumulates, leading to galactosemia. It is paly excreted in urineRef: DM Vasudevan, 7th edition