A 1999 retrospective study of 74 cases of neonatal onset found that 32 (43%) patients died during their first hyperammonemic episode. Of those who survived, less than 20% survived to age 14. Few of these patients received liver transplants.
Ornithine transcarbamylase deficiency
Ornithine aminotransferase deficiency
Arginine:glycine amidinotransferase deficiency
Glutaminase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
Galactose-1-phosphate uridylyltransferase deficiency
Malonyl-CoA decarboxylase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency