Disease

Citrullinemia1

Gene

ASS1

Inheritance AR
Current Treatments protein restriction, sodium phenylbutyrate, Ravicti, L-carnitine, Liver transplantation
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test plasma amino acid analysis1
ClinGen https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1017
Disease Frequency (per 100,000) 1.2951
Genes Included in Disease Frequency ASS1
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Citrullinemia&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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