Screening of ass1 gene in two Saudi families from al-madinah al-monawarah with citrullinemia disorder

Abstract

Citrullinemia is life-threatening disease, it occurs in 1:57,000 births and usually becomes evident in the first few days of life. It belongs to a small number of conditions called urea cycle disorders (UCD)1 and it is characterized by accumulation of ammonia in the blood because of defect in enzyme called argininosuccinate synthetase (ASAS), which is either being missing or not working properly. ASAS is responsible for converting citrulline to arginine in urea cycle. Accumulated citrulline and ammonia impair the organ’s antioxidant capacity.2