Pyruvate carboxylase deficiency, benign type

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Synonyms: Pyruvate carboxylase deficiency type C

Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.

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://www.orphadata.org. Data version May 2024

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Pyruvate carboxylase deficiency, benign type?

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Advocacy Organizations

The Mito Foundation

Mito Foundation is Australia’s peak body dedicated to supporting and empowering people affected by mitochondrial disease (mito). Our mission is to be the catalyst of energy, hope and cures for every Australian impacted by mito. Mito is a debilitating genetic disorder that robs the body’s cells of energy, causing single or multiple organ dysfunction or failure, and in many instances death.

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Clinical Trials

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