Citrullinemia type 1

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

Citrullinemia
	Citrullinemia type 1
		ASS1
	Citrullinemia type 2

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