Fatty Acid Oxidation Defects – Board-Style Questions

What this deck covers

fatty acid oxidation defects 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. Collapse on the third day
2. The peak in the profile
3. More than the liver
4. Why this illness, and not the others
5. What the drip must do
6. How long is too long
7. The first sign of a cold
8. An old name for it
9. The sample that still matters
10. The mother’s own trouble
11. More than one enzyme
12. A fat that can be used
13. Collapse on the ward
14. Vision in the long run
15. Listed for an operation
16. How it came about
17. The brother at home
18. What to expect

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: Accidental ingestion of a sulfonylurea, The eight-carbon species, with six and ten beside it, A medium-chain defect of the usual severity, Dehydration reduced the delivery of sugar, Enough glucose to switch off the breakdown of fat, A fixed number of calories to be given on each day, Wait until a bedside reading is abnormal, Autoimmune hepatitis presenting acutely, Fat accumulating inside the liver cells, The prematurity itself must have caused the baby’s defect, Carnitine alone, at a pharmacological dose, Coconut butter, which raises the ketone supply, An arrhythmia, which these defects cause in a crisis, Cataracts forming because of the dietary restriction.

Clinical pearls from this deck

• A fasting collapse with no ketones: the fat pathway is shut.
• Eight carbons flanked by six and ten: the medium-chain block.
• Big heart and a high muscle enzyme: think long chain.
• It is the missed meals, not the virus, that does the harm.
• Run the sugar high enough to turn the fat pathway off.
• The plan names the hours he may go without food.

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.