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Pediatrics General 1a278347

True regarding galactosemia

A
Mental retardation occurs
B
Defect in epimerase
C
Defect in galactose 1PO4 uridyl transferase
D
All the above
High-Yield Explanation
Inability to metabolise galactose occurs in galactosemia which may be caused by deficiency of galactose-1-phosphate uridyl transferase,UDP-Galactose-4-Epirnerase and galactokinase. Out of three, most common is Galactose =1-phosphate uridyl transferase deficiency.

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