What this deck covers
Argininosuccinic Aciduria 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: Argininosuccinic Aciduria (ASA), Propionic Acidemia, Maple Syrup Urine Disease (MSUD), Septic Shock, Carbamoyl phosphate synthetase 1 (CPS1), Ornithine transcarbamylase (OTC), Argininosuccinate synthetase (ASS), Argininosuccinate lyase (ASL), Elevated ammonia, Elevated argininosuccinic acid, Elevated citrulline, Elevated orotic acid, Administer oral arginine supplementation, Poor dietary compliance causing recurrent hyperammonemia, Side effects of sodium benzoate therapy, Comorbid essential hypertension unrelated to ASA, Valproic Acid, 50% recurrence risk, Pili torti, Uncombable hair syndrome, Trichorrhexis nodosa, To lower elevated citrulline levels, To prevent trichorrhexis nodosa only, Argininosuccinic Aciduria (ASL deficiency), OTC Deficiency, CPS1 Deficiency.
Clinical pearls from this deck
- Hyperammonemia WITHOUT metabolic acidosis and WITHOUT ketosis → think urea cycle disorder (organic acidemias cause acidosis + ketosis). Within the UCDs, an elevated argininosuccinic acid level is the distinguishing feature confirming ASA — it accumulates only here. In a true crisis ammonia may exceed 500 µmol/L, a metabolic emergency.
- ASA = deficiency of argininosuccinate lyase (ASL), which catalyzes step 4 of the urea cycle (argininosuccinate → arginine + fumarate). Deficiency causes argininosuccinate to accumulate, arginine to fall, and ammonia to rise. Gene ASL, chromosome 7q11.21, autosomal recessive. (High argininosuccinate + low arginine is the signature.)
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.
