You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Pyruvate dehydrogenase E2 deficiency, look for clinical trials, and connect with others living with it — all in one place.
Open the full Pyruvate dehydrogenase E2 deficiency hub →Pyruvate dehydrogenase E2 deficiency is a rare condition. Also known as Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency, Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase complex component E2 deficiency. Tomeko brings together the specialists, research, clinical trials, treatments and community for Pyruvate dehydrogenase E2 deficiency so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:79244 · OMIM 245348 · ICD-10 E74.4 · GARD 0016712
Start by learning the basics from an authoritative source, find a specialist or center that sees Pyruvate dehydrogenase E2 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 Pyruvate dehydrogenase E2 deficiency, filtered to your area.
Tomeko shows live, recruiting studies for Pyruvate dehydrogenase E2 deficiency from ClinicalTrials.gov on the hub.