Most common enzyme deficiency responsible for galactosemia is:

a. UDP galactose epimerase
b. Galactokinase
c. Galactosidase
d. Galactose-1-phosphate uridyl transferase

Types

Galactose is converted into glucose by the action of three enzymes, known as the Leloir pathway. There are diseases associated with deficiencies of each of these three enzymes:

Type				Locus	Enzyme	Name
Type 1				9p13	galactose-1-phosphate uridyl transferase	classic galactosemia
Type 2				17q24	galactokinase	galactokinase deficiency
Type 3				1p36-p35	UDP galactose epimerase	galactose epimerase deficiency, UDP-Galactose-4-epimerase deficiency

Ans. d.