Glycogen Storage Disease – Board-Style Questions

What this deck covers

glycogen storage disease in 18 board-style clinical cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong, with the guideline or textbook it follows named on the answer.

Board-style teaching questions for paediatricians and trainees preparing for paediatric board, MRCPCH and licensing examinations. Written from published guidelines and standard paediatric textbooks, with the source named on every answer.

The 18 cases, in order

1. A very round tummy
2. Three results together
3. Sugar down, acid up
4. Enzyme raised as well
5. Mouth ulcers and boils
6. What to eat at bedtime
7. Too small for starch
8. Sugars from the wrong door
9. Sick at home
10. Lumps found on review
11. Blood in the urine at twelve
12. Bleeding after a small operation
13. A liver that scars
14. A test on the arm
15. Before the match
16. Catching up
17. Two boys in one family
18. Better as he gets older

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: The liver cannot make glucose from protein, Three by-products of one blocked pathway, Poor perfusion is generating the acid instead, A defect of new glucose formation from protein alone, A subtype in which the neutrophils are also affected, A long-acting carbohydrate tablet taken at bedtime, A single large feed given late at night, Salt, which worsens the enlargement of the liver itself, Sugar by vein, with the acid clearing as it runs, Abscesses arising from the bowel inflammation itself, A low-calcium diet with a much reduced dairy intake, The liver failing to make clotting factors, Scarring of the liver, early and progressive, A rise in both the lactate and the ammonia.

Clinical pearls from this deck

• Huge liver, normal spleen, low sugar with a high lactate.
• Milky plasma, high lactate, high urate: one block, three exits.
• Here the acid rises as the sugar falls, and feeding fixes both.
• Normal lactate and urate but a high muscle enzyme: debranching.
• Ulcers and low neutrophils point to the transporter subtype.
• Raw cornstarch with water buys a whole night’s cover.

Work through the deck once for recognition, then again a week later to test yourself — each question gives the answer and explains why every other option fails.

More from this system: all genetics and metabolic case decks · pediatric reference values.