Summary: Tentamenstof

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• When a compound has lot of H+, it will be...

  oxidized

• NAD+ (ox/red)

  Is the oxidized form and can be reduced

• Von Gierke disease (enzyme, results, organs)

  Enzyme defect = glucose-6-phosphate.
  Results:
  - hypoglycemia (you can't make glucose)
  - lactic acidosis (first TCA cycle, then enough ATP, oxphos is blocked, you make lactate to restore the NAD+/NADH levels)
  - hyperlipedemia (there is an accumulation of acetyl coA which is converted to fatty acids > VLDL
  - hyperuricemia (there is an increased amount of G-6-P which is metabolized via pentose phosphate pathway.  
  Organs: liver and kidneys

• Pompe disease (enzyme, results, organs)

  Enzyme defect = lysosomal alfa(1,4)glucosidase
  Results: the lysosomes become engorged with glycogen which can't be broken down
  Organs: all

• Anderson disease (enzyme, results, organs)

  Enzyme defect = branching enzyme
  Results: you get long, unbranched glycogen structures. It had less non-reducing ends to break glycogen down so the rate of breakdown is lowered. Also, it can be crystalized.
  Organs: Liver and muscle

• McArdle disease (enzyme, results, organs)

  Enzyme defect = glycogen phosphorylase
  Results: you can't breakdown glycogen to glucose anymore. For exercise, you need to use other sources than glycolysis (first you can use ATP, creatine phosphate and then you need fatty acid oxidation)
  Organs: muscle

• Familiaire hypercholesterolemia (enzyme, result, treatment, organs)

  Enzyme: no LDL receptors
  Result: accumulation of LDL in blood, macrophages will take up the lipids but they can't degrade the cholesterol.
  Treatment: statins: HMG-COA reductase is inhibited > less production of cholesterol and more LDL receptor expression
  Cholestyramine/ezetimibe > inhibit bile absorption
  Organs: liver, heart, bloodveins

• MCAD-deficiency (enzyme, result, organs)

  Enzyme: medium-chain acetyl-CoA dehydrogenase
  Result: you can't breakdown medium chain fatty acids. The medium chain fatty acids will accumulate and free CoA drops. [Acetyl Coa] will be lower, and then pyruvate carboxylase is inhibited (because activated by acetylCoa), and thus gluconeogenesis is inhibited and blood glucose becomes low.
  Also, when [acetyl Coa] is low, it results in reduced ketone body synthesis.

• PKU, phenyl ketoneria (enzyme, result, treatment organs)

  Enzyme = phenylalanine hydroxylase
  Result: phenylalanine cant be converted to tyrosine.
  Treatment: low phenylalanine diet and addition of tyrosine
  Organs: liver and central nerve system

• Gluconeogenesis (route, ATP costs)

  Gluconeogenesis is the production of glucose out of lactate, glycerol, glucogenic amino acids.
  - Lactate: first to pyruvate (lactate dehydrogenase), then to oxaloacetate (pyruvate carboxylase), then to PEP (PEP carboxykinase) and then to triosefosfates
  (costs 6 NTP,
  - Glycerol: first to trosefosfates, then to fructose1,6-biphosphate, then to fructose6-phosphate (fructose1,6,biphosphatase), then to glucose-6-phosphate, then to glucose (glucose6-phosphatase)
  - glucogenic amino acids: they are made into intermediates of the TCA cycle
  Only the liver can do this