BIOS35: Problem Solving Session Time 11:55 AM. A slxteen-year-old girl is rushed
ID: 255471 • Letter: B
Question
BIOS35: Problem Solving Session Time 11:55 AM. A slxteen-year-old girl is rushed to the emergency room due to extreme fatigue during P.E Patient History -Since young she has had recurrent episodes of extreme fatigue. -Episodes occurred only if she fasted for more than 8 hours -Her mother routinely gave her food late at night and woke her early for breakfast Her developed height and weight are normal - Today, she missed breakfast and by noon was extremely fatigued. Treatment in ER At the hospital she was immediately given glucose intravenously. Her symptoms responded dramatically. Her initial blood work showed: Serum glucose was low (38 mg/dl; normal is 70-100) Blood urea slightly elevated Free fatty acid levels were elevated Ketone bodies were below normal 1. What is wrong with her? Explain. 2. Which enzyme is defective? Explain. 3. What treatment will help her? Explain.Explanation / Answer
1. The serum level shown in the case is too low than the normal which indicate that the girl is suffering from hypoglycemia. Hypoglycemia is the reason of fatigue, loss of consciousness, clumsiness and seizures.
2. Deficiency or defect in the enzyme Galactose-1-phosphate uridyl transferase is the main cause of hypoglycemia.
3. High carbohydrate containing diet and intravenous infusion of the glucose are commonly used for the treatment of hypoglycemia.
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