Commonest enzyme defect in galactossemia is:

Correct Answer: Uridyl transferase
Description: Inability to metabolize galactose occurs in the galactosemias, which may be caused by inherited defects of galactokinase, uridyl transferase, or 4-epimerase, though deficiency of uridyl transferase is the best known. The general condition is more severe if it is the result of a defect in the uridyl transferase, since galactose 1-phosphate accumulates and depletes the liver of inorganic phosphate. Ultimately, liver failure and mental deterioration result. In uridyl transferase deficiency, the epimerase is present in adequate amounts, so that the galactosemic individual can still form UDPGal from glucose. Ref: Harper 28th edition, chapter 21.
Category: Biochemistry
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