1. What is the treament of Cystinuria and what is a possible consequence of not treating
    Acetazolide to alkinlize the urine cystine kidney stones due to excess cysteine
  2. What is the treatment of fructose intolerance?
    decrease intake of both fructose and sucrose (glucose+ fructose)
  3. What is the treatment of Homocystinuria
    1. For a defiency incystathionine synthase tx by decrease Met and increase Cys in diet 2. for decreased affinity of synthase Tx by decrease vitamin B6 in diet
  4. What is the Tx ofgalactosemia?
    Exclude galactose and lactose(galactose +glucose) formdiet
  5. what offspring of females affected with a mitochondrial inherited disease will be effected?
    all offspring can be effected
  6. what percent of offspring from two autosomal recessive carrier parents will be effected?
  7. what percent of sons of a heterazygous mother carrying an x-linked disease will beeffected?
  8. What period of life do autosomal dominant defects present in?
    often present clinically after puberty
  9. What three phenyl ketones build up in the urine of PKU patients
    phenylacetate, phenyllactate,phenylpyruvate
  10. What to thyroxine and Dopa have in common
    both derived form tyrosine
  11. What type of genetic error is usually more severe autosomal recessive or dominant?
    AR disorders are often more severe
  12. What type of inheritance is transmitted only through mothers?
  13. When do patients usually present with autosomal recessive disorders?
    present in childhood
  14. Why are RBC so susceptible to Glycolytic enzyme def.
    RBC's metabolize glucose anaerobically (nomitochondria) and depends on glycolysis
  15. Why do people with fructose intolerance become hypoglycemic?
    deficent aldolase B causes the accumulation of Fructose 1-phosphate which acts as a phosphate sink and traps thephosphate. Decreased phosphate availability inhibits glycogenolysis and gluconeogenesis
  16. X-linked recessive disease isaften more severe in
  17. 1,3-BPG
    2,3-BPG via bisphosphoglycerate mutase
  18. Acyl
    coenzyme A, lipoamide
  19. aldehydes
  20. Arachidonate
    prostaglandins, -thromboxanes, -leukotrienes
  21. Associate the following signalmolecule precursors.
  22. At body pH, what AA arenegatively charged?
    Arg and Lys His is neutral at pH 7.4
  23. At body pH, what AA are positvely charged?
    Asp and Glu
  24. ATP
    cAMP via adenylate cyclase
  25. By what rxn order kinetics does alcohol dehydrogenase operate?
    zero order kinetics
  26. CH(3) groups
  27. Choline
  28. Choline
    ACh via choline acetyltransferase
  29. CO(2)
  30. Contrast glucagon andinsulin.
    glucagon phosphorylates stuff, -turns glycogensynthase off and phosphorylase on
  31. Contrast hexokinase and glucokinase.
    hexokinase throughout thebody, -GK in liver and haslower affinity but highercapacity for glucose
  32. Contrast hexokinase and glucokinase.
    only HK is feedback inhibited by G6P
  33. Does insulin affect glucose uptake of brain, RBC's and liver?
  34. Does insulin inhibit glucagon release by alpha cells of pancreas?
  35. electrons
  36. Fructose-6-phosphate
    fructose-1,6-bis-P via PFK(rate limiting step ofglycolysis)
  37. Glucose
  38. glutamate
    GABA via glutamatedecarboxylase (requires vit.B6)
  39. GTP
    cGMP via guanylate cyclase
  40. How are ketone bodiesexcreted?
    in urine
  41. How are ketone bodiesformed?
    FA and AA converted to acetoacetate and b-hydroxybutyrate
  42. How do the statin drugs work?
    they inhibit HMG-CoA reductase
  43. How does disulfiram work?
    inhibits acetylaldehyde dehydrogenase
  44. How does FA enter the cytosol?
    via citrate shuttle
  45. How does FA enter the mitochondria?
    via the carnitine shuttle
  46. How does lead affect heme synthesis?
    inhibits ALA dehydratase and ferrochelatase prevents incorporation of Fe
  47. How does the brain metabolize ketone bodies?
    to 2 molecules of acetyl coA
  48. How is bilirubin removed from the body?
    collected by liver, conjugated with glucuronate excreted in bile
  49. How is ethanol metabolized?
    ethanol oxidized to acetylaldehyde by alcohol dehyd and NAD+acetalaldehyde ox to acetate by acetylaldehyde and NAD+
  50. How is FA entering the mitochondria inhibited?
    by cytoplasmic malonyl-CoA
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