Use of carglumic acid in propionic acidemia: a case report

Case presentation: The case is about a 1 year and 9 month old infant, child of consanguineous parents, born at term, Apgar 9/10, with respiratory distress, vomiting hypoactivity starting 48 hours life, laboratory tests were performed that showed severe metabolic acidosis, in addition to not being suggestive infection blood culture without microorganisms growth. At the time, measurement organic acids urine, amino plasma acylcarnitine profile on filter paper gathered, results propionic acidemia, which was confirmed molecular examination showing mutation PCCA gene homozygosity. patient sporadically presented associated hyperammonemia, then during one these episodes, 05/27/2022, carglumic acid started significant improvement symptoms ammonia within normal range.