Organic Acidaemias – Board-Style Questions

What this deck covers

organic acidaemias 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. Sour and sinking
2. The dipstick on day five
3. Counting the gap
4. Cheesy feet
5. Naming the block
6. The nitrogen rises too
7. Correcting the acid
8. The blood count in a crisis
9. Carrying it out
10. A vitamin worth trying
11. Made somewhere else
12. What goes on the plate
13. The heart, years later
14. It looks like something else
15. After the worst admission
16. The kidneys give way
17. Getting it in
18. Two vomits at eleven at night

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: A renal tubular acidosis, A newborn does not normally make ketones, Bicarbonate is being lost through the inflamed bowel, Multiple carboxylase deficiency, A block below propionyl-CoA, not at it, The liver is failing and cannot clear it, An infusion of intravenous insulin and glucose, Antibodies from the mother have crossed over, Levocarnitine, given intravenously in the crisis, Ergocalciferol at a high weekly dose, Loperamide, to slow transit through the whole bowel, A ketogenic diet, high in fat and low in any sugar, A cardiomyopathy that appears despite good control, Insulin is always contraindicated in this sort of disorder.

Clinical pearls from this deck

• Well for days, then deep breathing and a wide gap.
• Ketones in a newborn are never normal, fed or not.
• Wide gap, normal lactate, no poison: an organic acid.
• Cheese or sweaty feet on a sick newborn: isovaleric.
• Propionylcarnitine is shared; the urine acid names the step.
• The acid switches off nitrogen disposal, so both rise together.

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.