What this deck covers
Propionic Acidemia in fourteen board-style clinical cases with worked explanations, written for the Saudi Prometric (SCFHS) exam, MRCPCH Part 1 and Part 2, the Arab Board, DHA and OMSB. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong.
Diagnoses and management options tested
Across the fourteen cases you are asked to choose between options such as: Propionic Acidemia, Neonatal sepsis, Urea cycle disorder, Hypoxic-ischaemic encephalopathy, Methylmalonic Acidemia with renal involvement, Periventricular leukomalacia, Cortical atrophy with gyral simplification, Diffuse white matter signal abnormalities, Bilateral basal ganglia signal changes, Propionyl-CoA carboxylase (PCC), Methylmalonyl-CoA mutase, Phenylalanine hydroxylase, Ornithine transcarbamylase (OTC), Methylmalonic acid.
Exam pearls from this deck
- A neonate who is well at birth and crashes on day 2–3 with high anion gap metabolic acidosis + hyperammonemia + neutropenia has an organic acidemia until proven otherwise. The screening marker is elevated C3 (propionylcarnitine), and a normal methylmalonic acid is what separates PA from MMA.
- PA is not only a neonatal disease. Late-onset PA stays silent for months or years and is unmasked by a catabolic trigger — febrile illness, fasting, or surgery. The signature is developmental regression after an intercurrent illness in a previously normal child, with recurrent vomiting and protein intolerance.
The fourteen worked cases in this deck, with the images and the full explanation of every option, are part of Pediatric Case Review membership. See what is included, or start with the free Prometric question sets.
More from this system: all metabolic and genetic decks and question sets · the free Pediatric Prometric question bank · pediatric reference values.
