You are not alone. Here is where to start: learn the basics, find a specialist or center that sees GM3 synthase deficiency, look for clinical trials, and connect with others living with it — all in one place.
Open the full GM3 synthase deficiency hub →GM3 synthase deficiency is a rare condition. Also known as Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome, ST3GAL5-CDG. Tomeko brings together the specialists, research, clinical trials, treatments and community for GM3 synthase deficiency so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:171714 · OMIM 609056 · ICD-10 E77.8 · GARD 0012059
Start by learning the basics from an authoritative source, find a specialist or center that sees GM3 synthase deficiency, and connect with a patient organization. Tomeko brings these together on one hub.
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat GM3 synthase deficiency, filtered to your area.
Tomeko shows live, recruiting studies for GM3 synthase deficiency from ClinicalTrials.gov on the hub.