True regarding galactosemia - (PGI Dec 0l)
|A||Mental retardation occurs|
|B||Absent disaccharidase in intestine|
|C||Defect in epimerase|
|D||Defect in galactose 1PO uridy1 transferase|
Mental retardation; 'c' Defect in Epimerase & 'd' Defect in glacactose-1- Phosphate uridyl transferase
a. Inability to metabolise galactose occurs in galactosemia which may be caused by deficiency of galsctose-l- phosphate uridyl transferase, UDP-Galactose4-Epimerase and galactokinase.
b. Out of three, most common is Galactose = 1-phosphate uridyl transferrse deficiency.