You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Congenital hyperammonemia, type I, look for clinical trials, and connect with others living with it — all in one place.
Open the full Congenital hyperammonemia, type I hub →Congenital hyperammonemia, type I is a rare condition. Also known as CPS1 deficiency, CPS1D, Carbamoyl-phosphate synthetase I deficiency, Carbamoyl-phosphate synthetase deficiency. Tomeko brings together the specialists, research, clinical trials, treatments and community for Congenital hyperammonemia, type I so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:147 · OMIM 237300 · ICD-10 E72.2 · GARD 0007269
Start by learning the basics from an authoritative source, find a specialist or center that sees Congenital hyperammonemia, 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 Congenital hyperammonemia, type I, filtered to your area.
Tomeko shows live, recruiting studies for Congenital hyperammonemia, type I from ClinicalTrials.gov on the hub.