Here, we report SLC25A13c.1610_1612delinsAT mutation from India in a 13-year old boy who presented with recurrent episodes of delirium and hyperammonemia.
Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disorder caused by mutations of SLC25A13 gene encoding citrin and is characterized by recurrent encephalopathy with hyperammonemia.