Pyruvate carboxylase deficiency, infantile type

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Pyruvate carboxylase deficiency, infantile type

Synonyms: Pyruvate carboxylase deficiency type A

Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare severe form of PC deficiency characterized by infantile-onset mild to moderate lactic acidemia and a generally severe course.

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 September 2023.

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Pyruvate carboxylase deficiency, infantile type?

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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.