Table 3. [Urea Cycle Disorders: Molecular Genetics]. - GeneReviews®

Disease Name	Gene	Protein	Select OMIM Links
Carbamoylphosphate synthetase I deficiency	CPS1	Carbamoyl-phosphate synthase	608307 237300
Ornithine transcarbamylase deficiency	OTC	Ornithine carbamoyltransferase	300461 311250
ASS1 deficiency (citrullinemia type I)	ASS1	Argininosuccinate synthase	603470 215700
ASL deficiency (argininosuccinic aciduria)	ASL	Argininosuccinate lyase	608310 207900
Arginase deficiency	ARG1	Arginase-1	608313 207800
NAGS deficiency	NAGS	N-acetylglutamate synthase	608300 237310
Ornithine translocase (ORNT1) deficiency	SLC25A15	Ornithine Transporter (ORNT1)	603861 238970
Citrin deficiency	SLC25A13	Citrin	603859 605814 603471

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