Prenatal diagnosis can occur through fetal liver biopsy or by using genomic DNA from amniotic fluid.
Carbamoyl phosphate synthetase I deficiency
Malonyl-CoA decarboxylase deficiency
Holocarboxylase synthetase deficiency
Aminoacylase 1 deficiency
Pyruvate kinase deficiency
2,4 Dienoyl-CoA reductase deficiency
Guanidinoacetate methyltransferase deficiency
Arginine:glycine amidinotransferase deficiency