Just diagnosed with Pyruvate carboxylase deficiency?
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 interactive Pyruvate carboxylase deficiency hub →Overview
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
Find care for Pyruvate carboxylase deficiency
Authoritative references for Pyruvate carboxylase deficiency
Research & market landscape for Pyruvate carboxylase deficiency
Following Pyruvate carboxylase deficiency for research or industry? Tomeko brings together the recruiting trials, the latest literature, patient organizations, and the specialist and care-center footprint for Pyruvate carboxylase deficiency — the real-world landscape behind the condition, in one place.
- Latest Pyruvate carboxylase deficiency research on PubMed ↗
- Recruiting Pyruvate carboxylase deficiency trials on ClinicalTrials.gov ↗
- Explore the Pyruvate carboxylase deficiency research & specialist footprint on Tomeko
Researchers, patient organizations & industry: Tomeko provides de-identified, no-PHI demand and engagement signal, trial awareness, and a labeled, editorially-firewalled presence for Pyruvate carboxylase deficiency and every rare condition. See how Tomeko works with industry →
Common questions
What is Pyruvate carboxylase deficiency?
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. For an authoritative medical description see the reference sources on this page; Tomeko brings the specialists, clinical trials, patient organizations and community for Pyruvate carboxylase deficiency together in one place.
What are the symptoms of Pyruvate carboxylase deficiency?
Symptoms of Pyruvate carboxylase deficiency vary from person to person. For a reviewed, plain-language overview see the authoritative references below (NIH GARD, Orphanet), and discuss your own symptoms with a clinician who treats Pyruvate carboxylase deficiency.
How is Pyruvate carboxylase deficiency treated?
Treatment for Pyruvate carboxylase deficiency depends on the individual and is managed by specialists. Use Tomeko to find clinicians and Centers of Excellence who see Pyruvate carboxylase deficiency, and review current options with them.
What causes Pyruvate carboxylase deficiency — is it genetic?
The cause and inheritance of Pyruvate carboxylase deficiency are described in the authoritative references linked on this page. A genetics or specialist clinician who treats Pyruvate carboxylase deficiency can explain what it means for you and your family.
I was just diagnosed with Pyruvate carboxylase deficiency — what should I do first?
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.
Where can I find a specialist for Pyruvate carboxylase deficiency?
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Pyruvate carboxylase deficiency, filtered to your area.
Are there clinical trials for Pyruvate carboxylase deficiency?
Tomeko shows live, recruiting studies for Pyruvate carboxylase deficiency from ClinicalTrials.gov on the hub.
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- 3-methylglutaconic aciduria type 1
- 3-Methylglutaconic aciduria type 2
- 3-Methylglutaconic aciduria type 3