Urea cycle disorders: A puzzling case of acute encephalopathy.

Abstract

Abstract: Urea cycle disorders (UCDs) are rare genetic disorders affecting the urea cycle, a metabolic pathway that leads to the excretion of waste products such as ammonia. This case report describes a patient who developed acute encephalopathy secondary to hyperammonemia. Following an extensive workup to determine the etiology of the hyperammonemia, the patient was found to have a UCD. Diagnosis of a UCD was challenging, not only due to the rarity of the disorder, but also in this case due to atypical presentation and multiple confounding clinical variables. However, after the UCD was identified and appropriately managed, the patient's clinical status improved.