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This section gives an overview of the disease, and where available shows the following:
More information can be found in the help pages.
✖Disease ID: | 1267 | |
Name: | Hyperammonemia due to carbonic anhydrase VA deficiency | |
Associated with: | 1 target |
Description |
A metabolic disease caused by an autosomal recessive homozygous mutation in the CA5A gene. Results in onset of infantile hyperammonemic encephalopathy. This condition is characterised by multiple metabolic abnormalities, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine, and insufficient bicarbonate supply to essential mitochondrial enzymes. |
Database Links |
OMIM:
615751 |
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖carbonic anhydrase 5A | |
Drugs: | carglumic acid |
Comments: | Carglumic acid can improve neurologic symptoms (hyperammonemic encephalopathy). |
References: | 1 |
Click ligand name to view ligand summary page
Click the arrow in the final column to expand comments
More information can be found in the help pages.
✖No ligand related data available for Hyperammonemia due to carbonic anhydrase VA deficiency
1. van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S, Shyr C, Horvath GA, Eydoux P, Lehman AM et al.. (2014) Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. Am J Hum Genet, 94 (3): 453-61. [PMID:24530203]