Disease

Lysinuric protein intolerance1

Gene

SLC7A7

Inheritance AR
Current Treatments protein restriction, carnitine, citrulline, lysine supplementation, sodium benzoate
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test 24-hour urinary excretion of cationic amino acids2
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Lysinuric+protein+intolerance&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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