<unk>  has an autosomal recessive pattern of inheritance. The figure shows human chromosome 17q and the coding region that encodes the NAGS enzyme. It has seven exons and six introns. The exons are shown as red squares. The chromosome found to be carrying the gene encoding for N-Acetyl Glutamate synthetase is chromosome 17q (q stands for longer arm of the chromosome) in humans and chromosome 11 in mice. In both organisms, the chromosome consists of seven exons and six introns and non-coding sequence. The cause for this disorder is a single base deletion that led to frameshift mutation, and thus the error in gene's coding for this specific enzyme.
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