You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Maple syrup urine disease, look for clinical trials, and connect with others living with it — all in one place.
Open the full Maple syrup urine disease hub →Maple syrup urine disease is a rare condition. Also known as BCKD deficiency, BCKDH deficiency, Branched-chain 2-ketoacid dehydrogenase deficiency, Branched-chain ketoaciduria, MSUD. Tomeko brings together the specialists, research, clinical trials, treatments and community for Maple syrup urine disease so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:511 · OMIM 248600, 615135, 620698 · ICD-10 E71.0 · GARD 0003228
Start by learning the basics from an authoritative source, find a specialist or center that sees Maple syrup urine disease, 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 Maple syrup urine disease, filtered to your area.
Tomeko shows live, recruiting studies for Maple syrup urine disease from ClinicalTrials.gov on the hub.