TY - JOUR T1 - Status epilepticus secondary to hyperammonaemia: a late presentation of an undiagnosed urea cycle defect JF - BMJ Case Reports JO - BMJ Case Reports DO - 10.1136/bcr-2020-238023 VL - 14 IS - 5 SP - e238023 AU - Penelope Beddoes AU - Gabriela Nerone AU - Charlotte Tai Y1 - 2021/05/01 UR - http://casereports.bmj.com/content/14/5/e238023.abstract N2 - In this report, we describe the diagnosis, investigation and management of a patient presenting with refractory status epilepticus secondary to a previously unrecognised urea cycle defect, ornithine transcarbamylase deficiency, causing a hyperammonaemic encephalopathy. While metabolic disorders will be readily considered in a paediatric population presenting with difficult seizures, it is unusual for such cases to present in adulthood, and maintaining a broad differential in patients with status epilepticus is important. Early recognition and initiation of treatment are vital. Furthermore, the patient had been diagnosed with schizophrenia over a decade previously and more recently started on sodium valproate, a medication known to contribute to hyperammonaemia. This case also emphasises the importance of exclusion of underlying organic disease prior to diagnosis of psychiatric conditions. ER -