Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

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Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

Synonyms: CA-VA deficiency

A rare hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events the disorder shows a relatively benign course. Multiple metabolic abnormalities are present including metabolic acidosis respiratory alkalosis hypoglycemia increased serum lactate and alanine.

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 October 2023.

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Hyperammonemic encephalopathy due to carbonic anhydrase VA 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.