Galactokinase Deficiency and Galactosemia Quiz

Study Notes

Galactosemia and Enzyme Deficiencies

Classic galactosemia is caused by a deficiency in the enzyme galactose-1-phosphate uridyltransferase (GALT).
This enzyme plays a crucial role in the metabolism of galactose, leading to toxic accumulation when deficient.

Consequences of Galactokinase Deficiency

Galactokinase deficiency leads to the accumulation of galactose, which converts to galactitol, causing potential complications such as cataracts.

Galactitol Metabolism

Galactitol is a sugar alcohol derived from galactose, specifically formed through the action of the enzyme aldose reductase.
Sorbitol dehydrogenase converts galactitol to myo-inositol, facilitating further metabolism.

Recommended Treatment

The primary therapy for managing galactosemia involves a strict lactose-free diet, eliminating sources of galactose to prevent accumulation.

Enzyme Activity Rates

Sorbitol dehydrogenase has limited activity in converting galactitol, indicating slower metabolism when galactose is accumulated.

Female Galactosemia Risks

Despite appropriate treatment, females with galactosemia may still face reproductive health risks, including premature ovarian insufficiency.

Description

"Test Your Knowledge on Galactokinase Deficiency and Galactosemia - Learn About the Harmful Effects of Galactitol on Tissues and Nerves" - Take this quiz to understand the consequences of galactokinase deficiency and galactosemia, and how the accumulation of galactose can lead to the formation of galactitol, which can damage proteins in tissues. Discover the slow conversion of galactitol by sorbitol dehydrogenase, and how it can