Propionic Acidemia

What this deck covers

Propionic Acidemia in fourteen clinical teaching 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.

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, Orotic acid, Hyperglycinemia (elevated plasma glycine), Hyperalaninemia (elevated plasma alanine), Elevated plasma phenylalanine, Low plasma leucine with normal glycine, Specimen collected after 48 hours of life, Maternal vitamin B12 deficiency during pregnancy, Full-term gestational age at birth, Elevated plasma ammonia level, Elevated urine tiglylglycine, Elevated propionylcarnitine (C3) on acylcarnitine profile, Sodium benzoate / sodium phenylacetate (Ammonul).

Clinical 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.

More from this system: all metabolic and genetic decks and question sets · pediatric reference values.