You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Classic homocystinuria, look for clinical trials, and connect with others living with it — all in one place.
Open the full Classic homocystinuria hub →Classic homocystinuria is a rare condition. Also known as CBS-deficient HCU, Classical homocystinuria, Cystathionine beta-synthase deficiency, Cystathionine beta-synthase-deficient homocystinuria, Homocystinuria due to CBS deficiency. Tomeko brings together the specialists, research, clinical trials, treatments and community for Classic homocystinuria so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:394 · OMIM 236200 · ICD-10 E72.1 · GARD 0006667
Start by learning the basics from an authoritative source, find a specialist or center that sees Classic homocystinuria, 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 Classic homocystinuria, filtered to your area.
Tomeko shows live, recruiting studies for Classic homocystinuria from ClinicalTrials.gov on the hub.