1. Why does chronic alcoholism lead to vitamin deficiency? (4)
2. What is the cause of B1-responsive Maple Syrup Urine syndrome? What does this lead to --> What is the final syndrome called?
3. Who is most often seen in? What is it characterized by? What happens if it isn't treated.
4. How can it be treated? Why would this work?
1. Poor nutrition, impaired vitamin absorption, impaired uptake of vitamins into cells, impaired use of vitamins
2. Genetic mutation in BC a-keto acid dehydrogenase complex (decreased affinity of mutant for TPP leading to impaired oxidative carboxylation of branched chain AAs)
Leads to build up BCAA (leucine, isoleucine, valine)--> leading to "branched chain ketoaciduria"
- 3. Infants, sweet-smelling urine, coma/death.
- 4. Large dose of B1, bc enzyme has SOME activity, just not a lot.