PT  - JOURNAL ARTICLE
AU  - Penelope Beddoes
AU  - Gabriela Nerone
AU  - Charlotte Tai
TI  - Status epilepticus secondary to hyperammonaemia: a late presentation of an undiagnosed urea cycle defect
AID  - 10.1136/bcr-2020-238023
DP  - 2021 May 01
TA  - BMJ Case Reports
PG  - e238023
VI  - 14
IP  - 5
4099  - http://casereports.bmj.com/content/14/5/e238023.short
4100  - http://casereports.bmj.com/content/14/5/e238023.full
SO  - BMJ Case Reports2021 May 01; 14
AB  - 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.