Isovaleric Acidemia

What this deck covers

Isovaleric Acidemia in twelve 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 twelve cases you are asked to choose between options such as: Isovaleric Acidemia, Pyloric stenosis, G6PD deficiency, Congenital heart disease, Maple syrup, Mousy or musty, Sweaty feet, Upward gaze deviation, Generalised hypotonia, Isovaleryl-CoA dehydrogenase, Propionyl-CoA carboxylase, Methylmalonyl-CoA mutase, Phenylalanine hydroxylase, Isovaleric acid, C3-carnitine (propionylcarnitine), C4-carnitine (butyrylcarnitine), C5-carnitine (isovalerylcarnitine), C16-carnitine (palmitoylcarnitine), Sweat test, Renal biopsy, Urine organic acid analysis, Severity of biochemical changes, Age of onset only, Inheritance pattern, Response to aspirin, Initiate a high-protein diet to support anabolism.

Clinical pearls from this deck

• Onset on days 2–5 of life, once protein feeding begins, with vomiting, lethargy, hypotonia and a severe high anion gap metabolic acidosis is the classic IVA crisis. The give-away at the bedside is the “sweaty feet” odour of free isovaleric acid.
• Free isovaleric acid is volatile and smells of sweaty feet or ripe cheese — one of the few genuinely pathognomonic bedside findings in metabolic medicine. It is worth deliberately smelling the nappy and the breath in any encephalopathic neonate.

The twelve 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.