A child presents with hepatomegaly and bilateral lenticular opacities. Which of the following enzyme deficiency will NOT cause such features?
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 best known. Galactose is a substrate for aldose reductase, forming galactitol, which accumulates in the lens of the eye, causing cataract. Ultimately, liver failure and mental deterioration result. Ref: Bender D.A., Mayes P.A. (2011). Chapter 21. The Pentose Phosphate Pathway & Other Pathways of Hexose Metabolism. In D.A. Bender, K.M. Botham, P.A. Weil, P.J. Kennelly, R.K. Murray, V.W. Rodwell (Eds), Harper's Illustrated Biochemistry, 29e.
Galactose-1 -phosphate uridyl transferase
UDP-galactose-4-epimerase
Galactokinase
Lactase