Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

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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 July 2024

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Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

flok Health (formerly National PKU News)

National PKU News provides resources and support for individuals, families, and clinicians managing PKU (Phenylketonuria) and other inborn errors of metabolism. Our mission is to leverage innovation, insight, and research to improve the health, well-being, and daily lives of those with PKU and other IEMs.

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Clinical Trials

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