Disease

Galactokinase deficiency1, 2

Gene

GALK1

Inheritance AR
Current Treatments galactose/lactose-restricted diet
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test erythrocyte galactokinase enzyme activity3
Disease Frequency (per 100,000) 1.02254
Genes Included in Disease Frequency GALK1
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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