Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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

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 247525 [^]
Update: April 29, 2019