AACD is characterized by neuropsychiatric symptoms, does it mean that my child may have cognitive issues?

It is important to stress that citrin deficiency is an inborn error of metabolism that primarily affects the liver and its associated metabolic pathways. As long as there is no recurrent hyperammonemia, patients should not experience neurological or psychiatric symptoms, or cognitive impairments. Therefore, the cognitive development and abilities of the patient should not be affected if the patient does not develop Adolescent and Adult Citrin Deficiency (AACD)*, which has not been observed in children so far.

* Previously known as Citrullinemia type 2 (CTLN2)