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20 Nov 2019

- what is the structure of glycogen?

- What is the overall scheme for glycogen breakdown (aka glycogenolysis)? (include phosphorylase, debranching enzyme, 1,6-glucosidase, phosphoglucomutase)

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A 6-month-old Hispanic female infant begins having trembling with irritability (jittery spells) and vomiting after certain meals including baby food containing fruits. She showed a falloff in growth when pureed fruits and vegetables were introduced at age 4 months. She is hospitalized for evaluation, and blood obtained for testing when she exhibits tremors and irritability after a typical feeding. Serum glucose is 40 g/dL (normal 60-100) and plasma lactate 35 g/dL (normal 5-20), causing her physician to suspect hereditary fructose intolerance (a deficiency of the enzyme aldolase B). The symptoms and serum abnormalities of this disease are due to which of the following?

A. Accumulation of hexose phosphates, phosphate and ATP depletion, defective electron transport, and glycogen phosphorylase inhibition

B. Accumulation of triose phosphates, phosphate and ATP excess, defective glycolysis, and glycogen synthase inhibition

C. Accumulation of hexose phosphates, phosphate and ATP excess, defective electron transport, and glycogen phosphorylase stimulation

Please explain why the correct answer is right and what makes the others wrong.

(MC รขย€ย“ 0.25) A 6-month-old Caucasian boy becomes ill after fruits and vegetables are added to his diet of breast milk. Mother feels that he used to become colicky when she ate fruit, although her pediatrician did not think this was significant. After 1 month of these new foods, the child has stopped gaining weight and the pediatrician feels an enlarged liver. Initial blood tests show a mild acidosis (pH 7.2) with increased lactic acid and low blood glucose. The urine reagent strip test reaction is positive for reducing substances in the urine, but the glucose oxidase test is negative for glucosuria. A glycogen storage disease is suspected, and a liver biopsy dose shows mildly increased glycogen with marked cellular damage suggestive of early cirrhosis. Assays for type IV glycogen storage disease are negative, and the initial frozen urine sample is reanalyzed and found to contain fructose. The most likely diagnosis and the reasons for hypoglycemia and glycogen accumulation is which of the following?

A. Hereditary fructose intolerance with inhibition of liver phosphorylase

B. Hereditary fructose intolerance with inhibition of glycogen synthase

C. Essential pentosuria with inhibition of liver phosphorylase

Please explain why the correct answer is correct, and what makes the other wrong.

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