Disease

Congenital disorder of glycosylation, type It1, 2

Gene

PGM1

Inheritance AR
Current Treatments D-galactose
Evidence for Treatment guideline
Non-Molecular Testing Availability yes
Non-Molecular Test serum liquid chromatography / mass spectrometry (LC/MS)2
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Congenital+Disorders+of+Glycosylation&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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