Citrullinemia

Citrullinemia is an autosomal recessive urea cycle disorder (UCD) caused by a deficiency of the cytoplasmic enzyme argininosuccinate synthetase (ASS) that results in an accumulation of citrulline, the substrate of the enzyme, and ammonia as in all UCD.

Systematic

Urea cycle disorders
	Argininosuccinic aciduria
	Citrullinemia
		Citrullinemia type 1
			ASS1
		Citrullinemia type 2
			SLC25A13
	Citrullinemia type 2
	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
	Ornithine aminotransferase deficiency
	Ornithine carbamoyltransferase deficiency

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