Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Citrullinemia type 2

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
Citrullinemia type 2
SLC25A13

References:

1.

Fiermonte G et al. (2008) An adult with type 2 citrullinemia presenting in Europe.

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Update: Sept. 26, 2018