Q107: Galactosemia is a congenital disease condition with absence of the... - Food & Milk Chemistry, Quality Testing and Adulteration Detection - ICAR AIEEA PG Dairy Science 14 July 2023 Shift-1 Paper | Agrigyan

Classical Galactosemia (Type I) is an inherited autosomal recessive metabolic disorder caused by the congenital deficiency or absence of the enzyme Galactose-1-phosphate uridylyltransferase (GALT). In affected infants consuming milk lactose, galactose cannot be converted to glucose, leading to the toxic accumulation of galactose-1-phosphate and galactitol in tissues, causing liver failure, cataracts, and intellectual disability unless milk and dairy products are completely removed from the diet.

Option analysis:

• Galactose-1-phosphate uridylyltransferase: Correct. The missing enzyme in classical galactosemia.
• UDP-galactosyl transferase: Incorrect.
• UDP-glucose pyrophosphorylase: Incorrect.
• Beta-galactosidase: Incorrect. Deficiency of beta-galactosidase (lactase) causes lactose intolerance, not galactosemia.