Question

Time 11:55 AM.

A sixteen-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.

Answer 1

1. She was hypoglycemic, as her serum glucose level was extremely low (38 mg/dl). This results in various symptoms such as clumsiness, seizures, fatigue, loss of consciousness. Ketosis is often associated with hypoglycemia, as it provides alternate energy supply to the body from ketone bodies in the blood. Plasma FFA (free fatty acid) elevate to counter-regulate the hypoglycemia.

2. In Type I glycogenosis, the hypoglycemia is explained by the deficiency of glucose-6-phosphatase.

3. For immediate treatment of low blood glucose, she must eat or drink 15 grams carbohydrate (in form of juice, glucose tablets, or hard candy). The following type of diet may help:

• Eating small meals and snacks throughout the day, eating about every three hours

• Having a variety of foods, including protein (meat and nonmeat), dairy foods, and high-fiber foods such as whole-grain bread, fruit, and vegetables

• Limiting high-sugar foods