Disease

Citrullinemia, type II1, 2

Gene

SLC25A13

Inheritance AR
Current Treatments medium chain triglycerides (MCT) milk and lactose-free milk, lipid-soluble vitamins and ursodeoxycholic acid. Liver transplantation
Evidence for Treatment expert opinion
Non-Molecular Testing Availability no
ClinGen https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC118
Disease Frequency (per 100,000) 3.1551, 3
Genes Included in Disease Frequency SLC25A13
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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