1. Alpha-1 antitrypsin primarily inhibits trypsin and elastase, and its important physiological role is inhibiting elastase.
2. Variants of alpha-1 antitrypsin include the S variant, which is a substitution of valine for glutamate at position 264, and the Z variant, which is a substitution of valine for glutamate at position 342.
3. The document discusses alpha-1 antitrypsin, variants related to alpha-1 antitrypsin deficiency, the role of various enzymes in fructose metabolism, and conditions related to deficiencies in those enzymes.
1. Alpha-1 antitrypsin primarily inhibits trypsin and elastase, and its important physiological role is inhibiting elastase.
2. Variants of alpha-1 antitrypsin include the S variant, which is a substitution of valine for glutamate at position 264, and the Z variant, which is a substitution of valine for glutamate at position 342.
3. The document discusses alpha-1 antitrypsin, variants related to alpha-1 antitrypsin deficiency, the role of various enzymes in fructose metabolism, and conditions related to deficiencies in those enzymes.
1. Alpha-1 antitrypsin primarily inhibits trypsin and elastase, and its important physiological role is inhibiting elastase.
2. Variants of alpha-1 antitrypsin include the S variant, which is a substitution of valine for glutamate at position 264, and the Z variant, which is a substitution of valine for glutamate at position 342.
3. The document discusses alpha-1 antitrypsin, variants related to alpha-1 antitrypsin deficiency, the role of various enzymes in fructose metabolism, and conditions related to deficiencies in those enzymes.
1. In vitro alpha-1 antitrypsin primarily inhibits trypsin and elastase.
2. Alpha 1-antitrypsin has a wide spectrum of antiprotease activity, however, its important physiological role is the inhibition of elastase. 3. Substitution of a valine residue for glutamate at position 264 is S variant. 4. Substitution of a valine residue for glutamate at position 342 is Z variant. 5. Alpha 1-antitrypsin is a protein that is made in the liver. 6. Aldolase is present in three different isoforms. Aldolase C is the brain isoform. 7. Based on a research, Hereditary Fructose Intolerance will cause motor neuropathy 8. GLUT 5 is a facilitative glucose transporter isoform present in the small intestine and other tissues that transport fructose across the membrane. 9. Essential fructosuria is a rare, benign genetic condition in which fructose spills over to the urine because of lack of the enzyme fructokinase in the liver. 10. The most common variant of A1ATD is the Z variant. 11. PiMZ and PiMS are carriers of the alpha 1-antitrypsin deficiency. 12. FALSE. A decrease in inorganic phosphate decreases the activity of AMP deaminase and leads to increased production of uric acid. 13. The toxic effects of F1P can also be exhibited in patients that do not have a deficiency in aldolase B if they are parenterally fed with solutions containing fructose. 14. The enzyme present in the liver, kidney, and intestine that will phosphorylate fructose to F-1-P at the expense of ATP is fructokinase. 15. The absence of this enzyme leads to a build-up of F-1-P and depletion of liver ATP and phosphate stores fructose-1-phosphate aldolase. 16. Fructose-1-phosphate aldolase has an activity for fructose-1-phosphate and fructose 1,6-biphosphate.