Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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

References:

1.

Keskinen P et al. (2008) Hereditary urea cycle diseases in Finland.

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2.

OMIM.ORG article

Omim 215700 [^]
3.

Orphanet article

Orphanet ID 187 [^]
4.

Wikipedia article

Wikipedia EN (Citrullinemia) [^]
Update: April 29, 2019