You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Transketolase deficiency, look for clinical trials, and connect with others living with it — all in one place.
Open the full Transketolase deficiency hub →Transketolase deficiency is a rare condition. Also known as Short stature-developmental delay-congenital heart defect syndrome, TKT deficiency. Tomeko brings together the specialists, research, clinical trials, treatments and community for Transketolase deficiency so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:488618 · OMIM 617044 · ICD-10 E74.8 · GARD 0017894
Start by learning the basics from an authoritative source, find a specialist or center that sees Transketolase 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 Transketolase deficiency, filtered to your area.
Tomeko shows live, recruiting studies for Transketolase deficiency from ClinicalTrials.gov on the hub.