The symptoms are visible within the first week of life and if not detected and diagnosed correctly immediately consequences are fatal.
N-Acetylglutamate synthase deficiency
Creatine transporter defect
Glutathione synthetase deficiency
Cerebral creatine deficiency
Mitochondrial complex II deficiency
Carnitine palmitoyltransferase II deficiency
Carnitine palmitoyltransferase I deficiency
Pyruvate kinase deficiency