Podcast
Questions and Answers
Which enzyme deficiency causes classic galactosemia?
Which enzyme deficiency causes classic galactosemia?
What is the consequence of galactose accumulation in the body due to galactokinase deficiency?
What is the consequence of galactose accumulation in the body due to galactokinase deficiency?
What is the enzyme that converts galactitol to another compound?
What is the enzyme that converts galactitol to another compound?
What is galactitol?
What is galactitol?
Signup and view all the answers
What is the recommended therapy for galactosemia?
What is the recommended therapy for galactosemia?
Signup and view all the answers
What is the rate of conversion of galactitol by sorbitol dehydrogenase?
What is the rate of conversion of galactitol by sorbitol dehydrogenase?
Signup and view all the answers
What is the risk for females with galactosemia despite adequate treatment?
What is the risk for females with galactosemia despite adequate treatment?
Signup and view all the answers
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.
Studying That Suits You
Use AI to generate personalized quizzes and flashcards to suit your learning preferences.
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
