Disease

Carbamoyl phosphate synthetase I deficiency1

Gene

CPS1

Inheritance AR
Current Treatments protein restriction, citrulline, sodium benzoate, phenylbutyrate, liver transplatation, N-carbamylglutamate
Evidence for Treatment guideline2
Non-Molecular Testing Availability yes
Non-Molecular Test ammonia, plasma amino acid analysis (glutamine and citrulline), urine orotate3
Disease Frequency (per 100,000) 0.084
Genes Included in Disease Frequency CPS1
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Carbamoyl&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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