TY - JOUR AB - Mutations in the solute carrier family 25 (SLC25A13) gene may result in neonatal intrahepatic cholestasis caused by citrin deficiency and/or adult‑onset type II citrullinemia. These conditions are inherited in an autosomal recessive manner. The current case report describes a 43‑year‑old man who presented with sudden delirium and upper limb weakness. Upon admission, the patient was fully conscious and alert but later lost consciousness subsequent to a sudden convulsive seizure. Hyperammonemia was detected and analysis of the SLC25A13 gene identified an 851del4 mutation. Thus, the possibility of genetic disease should be considered as a potential cause of the symptoms of patients with altered states of consciousness, such as delirium and loss of consciousness, in cases where the cause of the disturbance is unknown. AD - Emergency Department, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, P.R. China AU - Tang,Lujia AU - Chen,Liang AU - Wang,Hairong AU - Dai,Lihua AU - Pan,Shuming DA - 2016/07/01 DO - 10.3892/etm.2016.3298 EP - 414 IS - 1 JO - Exp Ther Med KW - adult‑onset type II citrullinemia CTLN2 citrin deficiency PY - 2016 SN - 1792-0981 1792-1015 SP - 410 ST - Case report: An adult‑onset type II citrin deficiency patient in the emergency department T2 - Experimental and Therapeutic Medicine TI - Case report: An adult‑onset type II citrin deficiency patient in the emergency department UR - https://doi.org/10.3892/etm.2016.3298 VL - 12 ER -