Galactosemia is a Genetic Error of Metabolism Associated With

Question

Galactosemia is a genetic error of metabolism associated with:
A) deficiency of galactokinase.
B) deficiency of UDP-glucose.
C) deficiency of UDP-glucose: galactose 1-phosphate uridylyltransferase.
D) excessive ingestion of galactose.
E) inability to digest lactose.

Accepted Answer

Galactosemia is caused by a deficiency in the enzyme UDP-glucose: galactose 1-phosphate uridylyltransferase, which leads to toxic levels of galactose 1-phosphate that can cause damage to organs and tissues. Deficiencies in galactokinase or UDP-galactose are also associated with galactosemia, but they are less common. Excessive ingestion of galactose or inability to digest lactose are not associated with galactosemia.