Citrullinemia type I (CTLN1) is an inherited urea cycle disorder, now included in most newborn screening panels in the US and Europe. Due to argininosuccinate synthetase deficiency, CTLN1 can lead to recurrent hyperammonemic crisis that may result in permanent neurologic sequelae. Vomiting in patients with urea cycle disorders may either be the result or cause of acute hyperammonemia, particularly if due to an illness that leads to catabolism. Therefore, age-appropriate common etiologies of vomiting must be considered when evaluating these patients. We present a 1-month old male infant with CTLN1 who had a 1-week history of vomiting and was discovered to have hypertrophic pyloric stenosis. This is the first documented case of an infant with CTLN1 who was later diagnosed with hypertrophic pyloric stenosis, and only the second case of concomitant disease.
Keywords: citrullinemia; hyperammonemia; pyloric stenosis; vomiting.