You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Phosphoenolpyruvate carboxykinase (GTP) deficiency, look for clinical trials, and connect with others living with it — all in one place.
Open the full Phosphoenolpyruvate carboxykinase (GTP) deficiency hub →Phosphoenolpyruvate carboxykinase (GTP) deficiency is a rare condition. Also known as PEPCK deficiency. Tomeko brings together the specialists, research, clinical trials, treatments and community for Phosphoenolpyruvate carboxykinase (GTP) deficiency so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:2880 · OMIM 261650, 261680 · ICD-10 E74.4 · GARD 0016613
Start by learning the basics from an authoritative source, find a specialist or center that sees Phosphoenolpyruvate carboxykinase (GTP) deficiency, 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 Phosphoenolpyruvate carboxykinase (GTP) deficiency, filtered to your area.
Tomeko shows live, recruiting studies for Phosphoenolpyruvate carboxykinase (GTP) deficiency from ClinicalTrials.gov on the hub.