Disease

Homocystinuria1

Gene

CBS

Inheritance AR
Current Treatments vitamin B6 (pyridoxine), methionine-restricted diet, folate, vitamin B12, betaine
Evidence for Treatment guideline2
Non-Molecular Testing Availability yes
Non-Molecular Test plasma total homocysteine and plasma amino acids1
ClinGen https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC097
Disease Frequency (per 100,000) 0.823
Genes Included in Disease Frequency CBS
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Homocystinuria&term=&cntry=&state=&city=&dist=
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.