National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Carbonic anhydrase VA deficiency


Other Names:
Hyperammonemia due to carbonic anhydrase VA deficiency; Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency; Mitochondrial carbonic anhydrase va deficiency; Hyperammonemia due to carbonic anhydrase VA deficiency; Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency; Mitochondrial carbonic anhydrase va deficiency; CA-VA Deficiency See More
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 401948

Definition
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.

Visit the Orphanet disease page for more resources.
Last updated: 1/1/2019

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Global developmental delay 0001263
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Hyperalaninemia
Increased blood alanine
Increased serum alanine
[ more ] 		0003348
Hyperammonemia
High blood ammonia levels
0001987
Hypoglycemia
Low blood sugar
0001943
Increased serum lactate 0002151
Ketoacidosis 0001993
Ketonuria 0002919
Lactic acidosis
Increased lactate in body
0003128
Lethargy 0001254
Metabolic acidosis 0001942
Respiratory alkalosis 0001950
Tachypnea
Increased respiratory rate or depth of breathing
0002789
Variable expressivity 0003828
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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