You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Cystathioninuria, look for clinical trials, and connect with others living with it — all in one place.
Open the full Cystathioninuria hub →Cystathioninuria is a rare condition. Also known as Cystathionase deficiency, Cystathionine gamma-lyase deficiency syndrome, Gamma-cystathionase deficiency. Tomeko brings together the specialists, research, clinical trials, treatments and community for Cystathioninuria so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:212 · OMIM 219500 · ICD-10 E72.1 · GARD 0002428
Start by learning the basics from an authoritative source, find a specialist or center that sees Cystathioninuria, 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 Cystathioninuria, filtered to your area.
Tomeko shows live, recruiting studies for Cystathioninuria from ClinicalTrials.gov on the hub.