Carbamoyl phosphate<unk>  I is an enzyme found in mitochondrial matrix and it catalyzes the very first reaction of the Urea cycle, in which carbamoyl phosphate is produced. Carbamoyl Phosphate<unk>  1, abbreviated as CPS1, is activated by its natural activator N-Acetyl glutamate, which in turn is synthesized from acetyl-CoA and glutamic acid in the reaction catalyzed by N-Acetyl glutamate<unk> , commonly called NAGS. N-Acetyl Glutamate is required for the Urea cycle to take place. Deficiency in N-Acetylglutamate<unk>  or a genetic mutation in the gene coding for the enzyme, will lead to urea cycle failure in which ammonia is not converted to urea, but rather accumulated in blood leading to the condition called Type I Hyperammonemia. This is a severe neonatal disorder with fatal consequences, if not detected immediately upon birth.
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