Disease

SLC3A1 associated cystinuria1, 2, 3

Gene

SLC3A1

Inheritance AR and AD
Current Treatments increased water consumption, urine alkalinization to a pH >7 by oral citrate, penicillamine and tiopronin
Evidence for Treatment guideline4
Non-Molecular Testing Availability yes
Non-Molecular Test urinary cystine excretion2
Disease Frequency (per 100,000) 14.295
Genes Included in Disease Frequency SLC3A1, SLC7A9
Experimental / Investigational Therapies https://clinicaltrials.gov/search?cond=Cystinuria&viewType=Table
Last Updated: March 5, 2026
RX Genes
Privacy Overview

This website uses cookies so that we can provide you with the best user experience possible. Cookie information is stored in your browser and performs functions such as recognising you when you return to our website and helping our team to understand which sections of the website you find most interesting and useful.