Pyruvate carboxylase deficiency, severe neonatal type

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Pyruvate carboxylase deficiency, severe neonatal type

Synonyms: Pyruvate carboxylase deficiency type B

Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare extremely severe form of PC deficiency characterized by severe early-onset metabolic acidosis and a generally fatal outcome in early infancy.

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, severe neonatal 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.