NEET PG Medical – 2018 – Question – 25
Galactosemia is due to deficiency of which enzymes
a) Galactose-1-phosphate uridyltransferase
b) HGPRT
c) Galactokinase
d) Epimerase
Show Answer
Correct Answer – A
Answer: A. Galactose-1-phosphate uridyltransferase
Galactosaemia (British galactosaemia) is a rare genetic metabolic disorder that affects an individual’s ability to metabolize the sugar galactose properly. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation.