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This is a study tool. The 3 wrong answers for each question are randomly chosen from answers to other questions. So, you might find at times the answers obvious, but you will see it re-enforces your understanding as you take the test each time.
1. facial lesions - hypopigmented 'ash leaf spots -' cortical and retinal hamartomas - seizures - mental retardation - renal cysts - renal angiomyolipomas - cardiac rhabdomyomas - inc risk of astrocytomas

2. What liberates glucose from glucose 6 P

3. What are the results of pancreatic insuff in CF

4. What are the function of vit C

5. Describe the replication fork

6. what happens in acyl coa dehyrdogenase def

7. What is the energy source in the fed state right after a meal

8. What does inc phenylalanine lead to...

9. What is the defect in II A familial hypercholesterolemia

10. What happens to oxaloacetate in alcholism

11. How many rings do pyrimidines have

12. What is the breakdown product of NE

13. What leads to the deletion of the dystrophin gene in duchenne's muscular dystrophy

14. How doe NADH electrons from glycolysis and the TCA cycle enter the mitochondiria

15. Very Poor Carbohydrate Metabolism stands for 4 of the glycogen storage diseases - What are thy

16. nucleotide repeat for fragile x

17. What happens in a B12 def

18. trinucleotide repeat fo myotonic dystrophy

19. What does NADPH oxidase deficiency result in and why

20. Which type of chromatin is condensed - transcriptionally inactive - sterically inaccessible?

21. What does fomepizole do

22. What are the glucogenic essential amino acids

23. What are the symptoms of vit A def

24. This is the site where negative regulators bind

25. What does vit B3 def result in

26. What is the most common urea cycle disorder and What is the mode of inheritance?

27. What do def in in enzymes of gluconeogenesis cause

28. What co - factors are required for the pyruvated dehydrogenase complex

29. What does hormone sensitive lipase do

30. Milder form of type I with nl blood lactate levels - dz and enzyme

31. nucleotide repeat for fredreich's ataxia

32. What is imprinting and give an example

33. What happens in zinc def

34. Which phase of the HMP shunt is reversible and Which is irreversible

35. Infection with what organism can cause B12 def

36. in a 100 meter sprint Where does energy come from

37. What drugs can cause folate def

38. What collagen type is most frequently affected in ehlers danlos and What are common complications

39. What are the results of CF on male fertility

40. Wgat substances directly inhibit mitochondrial ATPase - causing an inc in proton gradient - no ATP because pump is stopped

41. benign asymptomatic condition with elevated levels of fructose in urine and blood - dz and enzyme

42. What can excess vit B3 cause

43. In what direction are DNA and RNA synthesized

44. What does hartnups disease cause

45. What is kartageners syndrome

46. Where is PEP carboxykinase found - What does it do - and What does it require

47. Type IV BM

48. What does the TCA cycle produce per 1 acetyl CoA

49. bilateral acoustic schwannomas - juvenile cataracts

50. What defects characterize DiGeorge syndrome