Disease

Congenital disorder of glycosylation, type IIk1, 2

Gene

TMEM165

Inheritance AR
Current Treatments D-galactose
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test serum transferrin isoelectric focusing2
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
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.