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Pathway Description
Citrullinemia Type I
Homo sapiens
Disease Pathway
Created: 2013-08-19
Last Updated: 2022-12-11
Citrullinemia Type 1, also called argininosuccinate synthetase deficiency, argininosuccinic acid synthetase deficiency or ASS deficiency, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of the urea cycle caused by a deficiency of argininosuccinate synthetase. Argininosuccinate synthetase is an important enzyme in the process of removing nitrogen from the body. This disorder is characterized by a large accumulation of ammonia in the blood as well as other bodily fluids . Symptoms of the disorder include vomiting, lethargy and intracranial pressure. Treatment with protein restriction and intravenous administration of arginine can help manage symptoms, and diet management throughout the patient’s life can also show improvement. It is estimated that citrullinemia type 1 affects 1 in 57,000 individuals.
References
Citrullinemia Type I References
[eMedicine: Article 942435](http://emedicine.medscape.com/article/942435-overview)
[OMIM: Entry 215700](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=215700)
[Uniprot: P00966](http://www.uniprot.org/uniprot/P00966)
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Quinonez SC, Thoene JG: Citrullinemia Type I
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Urea Cycle References
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