You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Pyruvate carboxylase deficiency, look for clinical trials, and connect with others living with it — all in one place.
Open the full Pyruvate carboxylase deficiency hub →Pyruvate carboxylase deficiency is a rare condition. Also known as Ataxia with lactic acidosis type 2, Ataxia with lactic acidosis type II, Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency, Leigh syndrome due to PC deficiency, Leigh syndrome due to pyruvate carboxylase deficiency. Tomeko brings together the specialists, research, clinical trials, treatments and community for Pyruvate carboxylase deficiency so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:3008 · OMIM 266150 · ICD-10 E74.4 · GARD 0007512
Start by learning the basics from an authoritative source, find a specialist or center that sees Pyruvate carboxylase 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 Pyruvate carboxylase deficiency, filtered to your area.
Tomeko shows live, recruiting studies for Pyruvate carboxylase deficiency from ClinicalTrials.gov on the hub.