You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Citrullinemia type I, look for clinical trials, and connect with others living with it — all in one place.
Open the full Citrullinemia type I hub →Citrullinemia type I is a rare condition. Also known as ASS deficiency, Argininosuccinate synthase deficiency, Argininosuccinate synthetase deficiency, Argininosuccinic acid synthase deficiency, Argininosuccinic acid synthetase deficiency, CTLN1, Citrullinemia type 1, Classic citrullinemia. Tomeko brings together the specialists, research, clinical trials, treatments and community for Citrullinemia type I so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:247525 · OMIM 215700 · ICD-10 E72.2 · GARD 0006114
Start by learning the basics from an authoritative source, find a specialist or center that sees Citrullinemia type I, 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 Citrullinemia type I, filtered to your area.
Tomeko shows live, recruiting studies for Citrullinemia type I from ClinicalTrials.gov on the hub.