Disease

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1

Gene

SLC25A15

Inheritance AR
Current Treatments protein-restricted diet, citrulline, and sodium phenylbutyrate
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test plasma ornithine, urinary homocitrulline1
Disease Frequency (per 100,000) 0.072
Genes Included in Disease Frequency SLC25A15
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=SLC25A15&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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