Enzyme defect in galactosemia ?
Ans. is 'd' i.e., All of the above Galactosemia is a group of metabolic disorders which results from inborn errors due to deficiency of the enzymes of galactose metabolism.The classical galactosemia is caused by deficiency of galactose-l-phosphate uridyl transferasee.The less common types of galactosemia occur due to deficiency of galactokinaseQ and UDP - galactose-4-epimerasee. Urine of the patient shows reducing sugary (galactose) which can be detected by Benedicts reagent.Glucose oxidase test is negative as it is specific for glucose.Thus, presence of reducing material (galactose) in urine with a negative glucose oxidase test suggests diagnosis of galactosemia.
Uridyl transferase
Galactokinase
Epimerase
All of the above