Disease

Congenital disorder of glycosylation, type Ia1, 2

Gene

PMM2

Inheritance AR
Current Treatments epalrestat
Evidence for Treatment guideline1
Non-Molecular Testing Availability yes
Non-Molecular Test phosphomannomutase activity in leukocytes 1
Disease Frequency (per 100,000) 51
Genes Included in Disease Frequency PMM2
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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