Abstract:
: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.
journal_name
Exp Ther Medjournal_title
Experimental and therapeutic medicineauthors
Tang L,Chen L,Wang H,Dai L,Pan Sdoi
10.3892/etm.2016.3298subject
Has Abstractpub_date
2016-07-01 00:00:00pages
410-414issue
1eissn
1792-0981issn
1792-1015pii
ETM-0-0-3298journal_volume
12pub_type
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