]> 2026-07-31T09:40:49+00:00 WBR0910 0 en A Galactokinase deficiency is characterized by the inability to transform galactose into galactose-1-phosphate with subsequent accumulation of galacticol. It is a relatively benign disorder, with galacticol accumulation leading to early-onset cataracts if the proper diet adjustments are not made. B Classic galactosemia is an autosomal recessive disease characterized by the absence of galactose-1-phosphate uridyltransferase (GALT) resulting in the accumulation of galactose-1-phosphate, galactose and galacticol. Although classic galactosemia is associated with cataracts, it is a more severe illness associated with mental retardation, failure to thrive and jaundice. C UDP-galactose-4-epimerase (GALE), also known as UDP-glucose-4-epimerase, catalyzes the reversible conversion of UDP-galactose to UDP-glucose. The deficiency of this enzyme results in symptoms similar to those of classic galactosemia. D Aldose reductase converts galactose to galacticol. Its deficiency does not lead to cataracts. Based on animal models, it is hypothesized that the lower the expression of aldose reductase the better the individual is protected from cataracts and atherosclerotic cardiovascular disease. E UDP-glucose-pyrophosphorylase converts UDP glucose to glucose-1-phosphate. This deficiency is yet to be reported among humans, or is likely benign and asymptomatic. Biochemistry A General Principles 2020-10-28T02:03:12Z 2459150.5855556 WBR0910