Journal of Neurological Sciences (Turkish) 2017 , Vol 34 , Num 1
Metabolic Encephalopathy in the Emergency Department; 28 Year Old Female Patient With Diagnosis of Carbamoyl Phosphate Synthetase 1 Deficiency
joaquin VALLE 1,F Javier Fonseca DEL POZO 2,Mr Karim HASSAN1,Jesús Carmona SIMÓN 2,Abigail CAFFEL 1
1Royal Bournemouth Hospital, Emergency Medicine, Bournemouth, United Kingdom
2Montoro Health Center, Emergency Medicine, Cordoba, Spain
3Royal Bournemouth Hospital, Emergency Medicine, Bournemouth, United Kingdom
Urea cycle disorders are commonly seen in the newborn and paediatric population, however presenting cases in adults are uncommon and are usually misdiagnosed before a correct diagnosis is elicited. Several enzymes are involved in the urea cycle, and a defect in any of them can lead to specific laboratory abnormalities and variable clinical presentations. Deficiency of the enzyme ornithine transcarbamylase (OTC) is the most common inherited urea cycle disorder; however, other less common enzyme deficits have been described. In adults, manifestations range from severe encephalopathy to subtle psychiatric manifestations. Prompt diagnosis and recognition are essential to a successful outcome. In this article, we present the case of a 28-year-old female admitted to an A&E department with encephalopathy of unknown aetiology resulting in a diagnosis of carbomoyl synthetase 1 deficiency as well as an unfortunate outcome. Keywords : OTC deficiency, urea cycle disorders, metabolic encephalopathy