Arginosuccinate synthetase is an enzyme in the urea cycle, which removes excess ammonia from the body. When it is deficient, either fully or partially, ammonia can build up and cause the signs and symptoms of CTLN1.
Citrullinemia type I
SCARF syndrome
Bartter syndrome
AREDYLD syndrome
Cystic fibrosis–related diabetes
Berdon syndrome
Kosaki overgrowth syndrome
Fabry disease