Type 2 citrullinemia is an adult-onset, autosomal recessive disorder characterized by episodes of hyperammonemic encephalopathy. It is caused by mutations in the SLC25A13 gene, which encodes the ...

A deficiency of AS (citrullinemia), the third enzyme in the urea cycle is inherited as an autosomal recessive trait.1 The prevalence has been estimated as approximately one in 100 000.2 A ...