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Free glucose Glucose-6-phosphatase Pucho s -6-phosphate Glycogen in o s--one Galacs 6. Why do patients with GSD exhibit hepatomegaly? 7. Hundreds of mutations in the name glucose-6-phosphatase have been discovered most reult in small amore in mnace sequence. Based on your introductory exposure to protein structure, explain why this would impact the entryme's function & What kind of bond do you think is broken to digest cornstarch (be specific 9. In the comstarch therapy, what is the solvent and what is the solute? 10. Henry's blood work was increases in a number of compounds Using the diagram right explain the increases in cholesterol, triglycerides, free fatty acids, lactate, and pyruvate 11. Based on the diagram to the right explain why GSD type patients are discouraged from consuming carbohydrates such as fructose, galactose, and lactose Glyceridehyde-3-phosphate Glycool Pyruvate Lactate Acetyl-COA Cholesterol Fatty acids END OF CHAPTER QUESTIONS Go! Visit the Mastering Microbiology Study Area to challenge your understanding with practice tests animations, quizzes, and clinical case studies! NCLEX HESI Think Critically and Clinically Questions highlighted in blue are opportunities to practice NCLEX, HESI, and TEAS-style Questions. TEAS 1. Using the periodic table, answer the following questions a. What is the atomic number for lithium (L.)2 b. What is the atomic mass of oxygen (O? c. What is the chemical symbol for potassium? d. How many protons does nitrogen have? e. How many neutrons does lead have? 5. Select the false statement about salts. a. Salts are ionic compounds. b Salts are formed when an acid and a base react with each c Salts consist of an anion and a cation component d. Salts may be inorganic e Salts are usually acids. f. Salts are usually hydrophilic. 2. What ions result when hydrogen donates one electron to fluorine? 6. Write the molecular formula for a substance that contains oxygen molecules, two carbons, and four hydrogen atoms. to follow the standard Conventions of writing molecular 3. Select all of the compounds from the list below. If it is not a com- pound, then state what it is. a. H.O b HD, с. 0, e. LCH, d. H, 7. Determine the following a. The molarity of a solution with 0.5 moles of glucose per water b. The concentration in weight/volume percent of a so contains 20 grams of sodium chloride per liter of water The concentration in mold) of a solution with 1 gram acid per 100 ml. of solution. d. The molarity of a solution with two of solute in 1 EH Indicate the true statements and then correct the false statements so that they are true a. Isotopes are atoms with differing numbers of protams and 8. Fill in the blanks: Acids donate

Answer 1

7. Mutations are basically changes in the nucleotide(s) of codons of a gene which leads to change in the amino acid residue in a protein sequence. It can be spontaneous, which arise due to error in replication, or it can be induced by chemicals or UV rays which leads to error-prone repairing of a gene.

Mutation can be of three types based on its consequence. A Silent Mutation is a change in the nucleotide that generally has no consequence either for the protein structure or its function. Hence, it is harmless. A Missense mutation causes a change in the amino acid residue of a protein sequence, which can lead to a protein malfunction due to misfolding or altered structure. A Nonsense mutation is the most damaging, which creates a premature stop codon in a gene sequence which leads to truncated peptide formation.

Glucose-6-Phosphatase (G6Pase) is the key enzyme in glycogenolysis and gluconeogenesis pathways. It converts glucose-6-phosphate to free glucose which can be circulated for fuel. A missense or nonsense mutation in G6Pase will lead to the production of a non-functional protein. A missense mutation in G6Pase can lead to misfolding and hence the active site of the enzyme may not form properly and remain unaccessible to substrate. A nonsense mutation will not form any protein at all. And hence, both of these types of mutation will lead to impaired glycogenolysis and gluconeogenesis.

9. Cornstarch therapy is given to patients who have Glycogen Storage Disease (GSD). GSD generally occurs because of mutation in G6Pase (Type Ia). Hence, GSD patients can not produce free glucose and leads to severe hypoglycemia during starvation phase. Cornstarch therapy is provided to maintain the normal blood glucose.

For Cornstarch therapy, Uncooked Cornstarch is used as a solute which is partially dissolved into luke-warm water (solvent).

11. A GSD patient has a malfunction G6Pase. Hence, they cannot process glucose-6-phosphate. It accumulates inside the cell and hence, these are forced to be shunted into different other pathways which produces excess lactic acid, triglyceride, cholesterol and uric acid. Consumption of fructose or galactose will lead to production of more glucose-6-phosphate. Similarly, Lactose will produce more galactose after hydrolysis. So, to prevent accumulation of glucose-6-phosphate, GSD patients are discouraged to consume carbohydrates such as fructose, lactose and galactose.