Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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.

external link
2.

OMIM.ORG article

Omim 215700 external link
3.

Orphanet article

Orphanet ID 187 external link
4.

Wikipedia article

Wikipedia EN (Citrullinemia) external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits