There is a specific pattern of N-acetyl amino acid excretion in the urine. The diagnosis can be confirmed by sequencing of the<unk> <unk>  gene.
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