Time 11:55 AM.
A sixteen-year-old girl is rushed to the emergency room due toextreme fatigue during P.E.
Patient History
- Since young she has had recurrent episodes of extremefatigue.
- Episodes occurred only if she fasted for more than 8 hours
- Her mother routinely gave her food late at night and woke herearly for breakfast
- Her developed height and weight are normal
- Today, she missed breakfast and by noon was extremelyfatigued.
Treatment in ER
- At the hospital she was immediately given glucoseintravenously. 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.
