Pyruvate carboxylase deficiency
Synonyms: 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
Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis failure to thrive developmental delay and recurrent seizures at an early age in severely affected patients.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Pyruvate carboxylase deficiency?
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Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
For a list of clinical trials in this disease area, please click here.