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24 Cards in this Set
- Front
- Back
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The defects of which TCA cycle enzymes were discussed during the last demonstration lab?Why these? |
- Pyruvate dehydrogenase complex (PARTIAL defect) - Pyruvate carboxylase deficiency (A,B,C-types) - Defects in other TCA enzymes results in death (most often at fetus stage) |
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Write with structures the reaction that couples glycolysis and TCA cycle. List the cofactorsalso. |
Pyruvate dehydrogenase complex |
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Name the four glycogenoses occurring in the material of the previous demo lab. |
- Type 1: Von Gierke´s disease - Type 2: Pompe´s disease - Type 3: Cori´s disease - Type 5: McArdle´s disease |
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Name the two different activities of the debranching enzyme. Which of these is defective inCori disease? |
- Glucosidase activity - Glucosyltransferase activity - Cori´s disease: Glucosidase activity is defective! |
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Under what conditions and why is the partial defect of glucose 6-phosphate dehydrogenasean evolutionary advantage? |
In the case of malaria. There is higher oxidative stress in the RBC (due to less GSH regeneration) which proves fatal to plasmodium. |
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Why does glucose-6-phosphate dehydrogenase deficiency cause serious problem for the redblood cell? |
- Regeneration of GSH from GSSG requires NADPH - The pentose phosphate pathway (G6PD is the rate-limiting step) is the only source of reduced Glutathione (GSH) in RBC. The lack of GSH puts the RBC at a substantial risk of damage from reactive oxygen species, due RBC being oxygen carriers and lacking the ROS-protective functions of reduced Glutathione (antioxidant) -> hemolytic anemia |
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The defect of an enzyme causes the accumulation of homogentisate. Write with structuresthe reaction and name the related disease. |
Black urine disease/alkaptonuria |
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List three lysosomal storage diseases. |
- Tay-Sachs disease - I-cell disease - Niemann-Pick disease |
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What enzymes are necessary for the degradation of fructose in human liver? |
- Fructokinase - Fructose-1-phosphate aldolase - Triose kinase - (Triose phosphate isomerase) |
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Name 5 metabolic diseases with a characteristic symptom of metabolic acidosis. |
- Methylmalonic acidemia - Propionic acidemia - Ketoacidosis - Lactic acidosis - Diabetic acidosis |
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Write with structures the reaction defective in fructosuria. |
Hepatic fructokinase |
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Write with structures the reaction defective in fructosaemia. |
Fructose-1-phosphate aldolase |
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Write with structures the reaction defective in alkaptonuria. |
Black urine disease/alkaptonuria |
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Write with structures the reaction defective in von Gierke’ disease. |
Glucose-6-phosphatase |
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Write with structures the reaction defective in McArdle’s disease. |
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Name the enzyme defective in albinism and name the required cofactor as well. |
- Tyrosinase - Cu2+ |
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Name the two compounds which are directly bound to form (gluco)cerebrosids. |
- Glucose - Ceramide |
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Name the common precursor of cerebroside synthesis and glycogen synthesis. |
UDP-glucose |
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Name the starting compounds of the (gluco)cerebrosid synthesis. |
- Palmitoyl-CoA - L-serine |
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Name the two compounds which are directly bound to form sphingomyelins. |
- Ceramide - Phosphocholine/(Phosphoethanolamine) head group |
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Name the starting compounds of the sphingomyelin synthesis. |
- Palmitoyl-CoA - L-serine |
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Name the two compounds which are bound to form gangliosides. |
- Glucosphingolipid - Sialic acid |
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List the possible causes of familiar hypercholesterolaemia. |
- Missing/non-functional LDL-receptors - Mutation in ApoB100 - Instead of liver cells macrophages take up cholesterol -> foam cells |
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List the lipoproteins. Indicate the one containing the most cholesterol. |
- LDL contains the most cholesterol - VLDL - IDL - HDL - Chylomicrons (contain the most triglycerides) |
