Abstract
Introduction: Ornithine Transcarbamylase (OTC) deficiency-an Xlinked disorder-is the most common urea cycle defect in infancy and often presents with elevated ammonia.
Case presentation: A 2-month-old with a normal newborn screenpresented with feeding difficulties. The patient was incorrectly diagnosed with gastroesophageal reflux, which at 4 months progressedto recurrent vomiting. At 5 months he developed status epilepticus,was found to have an ammonia level >500 micromol/L, and genetic testing revealed OTC deficiency.
Conclusion: Despite a normal newborn screen, unusual infant presentations need to be approached with a broad differential in order to prevent deleterious outcomes.