Disease

Galactosemia1

Gene

GALT

Inheritance AR
Current Treatments Galactose free diet
Evidence for Treatment guideline2
Non-Molecular Testing Availability yes
Non-Molecular Test erythrocyte galactose-1-phosphate uridylyltranserase (GALT) enzyme activity1
Disease Frequency (per 100,000) 2.273
Genes Included in Disease Frequency GALT
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Galactosemias&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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