As one of the urea cycle disorders,<unk>  needs to be distinguished from the others: carbamoyl phosphate synthetase deficiency, argininosuccinic acid lyase deficiency, ornithine transcarbamylase deficiency, arginase deficiency, and N-Acetylglutamate synthase deficiency. Other diseases that may appear similar to CTLN1 include the organic acidemias and<unk> I. To diagnose CTLN1, a blood test for citrulline and ammonia levels can indicate the correct diagnosis; high levels of both are indicative of this disorder. Newborns are routinely screened for CTLN1 at birth. A genetic test is the only definitive way to diagnose it.
Citrullinemia type I
SCARF syndrome
Bartter syndrome
AREDYLD syndrome
Cystic fibrosis–related diabetes
Berdon syndrome
Kosaki overgrowth syndrome
Fabry disease