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UDPglucose-4-epimerase deficiency

Just diagnosed with UDPglucose-4-epimerase deficiency?

You are not alone. Here is where to start: learn the basics, find a specialist or center that sees UDPglucose-4-epimerase deficiency, look for clinical trials, and connect with others living with it — all in one place.

Open the full UDPglucose-4-epimerase deficiency hub →

Overview

UDPglucose-4-epimerase deficiency is a rare condition. Also known as GALE deficiency, GALE deficiency galactosemia, Galactose epimerase deficiency galactosemia, Galactosemia type 3, Galactosemia type III, Type 3 galactosemia, Type III galactosemia, UDP-galactose-4-epimerase deficiency. Tomeko brings together the specialists, research, clinical trials, treatments and community for UDPglucose-4-epimerase deficiency so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.

Identifiers: ORPHA:79238 · OMIM 230350 · ICD-10 E74.2 · GARD 0005392

Find care for UDPglucose-4-epimerase deficiency

Authoritative references for UDPglucose-4-epimerase deficiency

Common questions

I was just diagnosed with UDPglucose-4-epimerase deficiency — what should I do first?

Start by learning the basics from an authoritative source, find a specialist or center that sees UDPglucose-4-epimerase deficiency, and connect with a patient organization. Tomeko brings these together on one hub.

Where can I find a specialist for UDPglucose-4-epimerase deficiency?

Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat UDPglucose-4-epimerase deficiency, filtered to your area.

Are there clinical trials for UDPglucose-4-epimerase deficiency?

Tomeko shows live, recruiting studies for UDPglucose-4-epimerase deficiency from ClinicalTrials.gov on the hub.

Informational only — not medical advice. Always consult a qualified clinician. Provider and reference data from public sources (NIH GARD, Orphanet, OMIM, HPO, MONDO, ClinicalTrials.gov, CMS NPPES). © Tomeko · tomekohealth.com