Ontology highlight
ABSTRACT:
SUBMITTER: Baskar D
PROVIDER: S-EPMC10645226 | biostudies-literature | 2023
REPOSITORIES: biostudies-literature
Baskar Dipti D Lakshmi Vathsala V Nalini Atchayaram A Arunachal Gautham G Bhat Maya Dhattatraya MD Nanjaiah Nandakumar Dalavaikodihalli ND Yadav Ravi R Chowdary Ravindranadh R Raja Pritam P Mounika Ambati A Sharath P S PS Vengalil Seena S
Annals of Indian Academy of Neurology 20230428 4
Hyperammonemia is a rare cause of adult episodic encephalopathy. Citrin deficiency resulting in citrullinemia type 2 (CTLN2) can lead to recurrent delirium in adults. Here we report a case of adult onset episodic encephalopathy due to citrin deficiency. A 40 years old male presented with one-year history of episodic encephalopathy triggered by high protein and fat diet. He also had chronic pancreatitis and subacute intestinal obstruction which is a novel manifestation of CTLN2. Evaluation showed ...[more]