You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Classical maple syrup urine disease, look for clinical trials, and connect with others living with it — all in one place.
Open the full Classical maple syrup urine disease hub →Classical maple syrup urine disease is a rare condition. Also known as Classic BCKD deficiency, Classic MSUD, Classic branched-chain alpha-ketoacid dehydrogenase deficiency, Classic branched-chain ketoaciduria. Tomeko brings together the specialists, research, clinical trials, treatments and community for Classical maple syrup urine disease so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:268145 · OMIM 248600, 620698, 620699 · ICD-10 E71.0 · GARD 0017263
Start by learning the basics from an authoritative source, find a specialist or center that sees Classical 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 Classical maple syrup urine disease, filtered to your area.
Tomeko shows live, recruiting studies for Classical maple syrup urine disease from ClinicalTrials.gov on the hub.