Pyruvate carboxylase deficiency

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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Pyruvate carboxylase deficiency?

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Advocacy Organizations

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).

Clinical Trials

For a list of clinical trials in this disease area, please click here.