The clinical picture is heterogeneous and includes motor delay, seizures, moderate to severe mental retardation, absent speech, growth delay, muscular hypotonia and autistic features.
Aminoacylase 1 deficiency
2,4 Dienoyl-CoA reductase deficiency
Malonyl-CoA decarboxylase deficiency
Carbamoyl phosphate synthetase I deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
Pyruvate kinase deficiency
Guanidinoacetate methyltransferase deficiency
Holocarboxylase synthetase deficiency