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Hyperammonemia due to carbonic anhydrase VA deficiency

Disease ID:1267
Name:Hyperammonemia due to carbonic anhydrase VA deficiency
Associated with:1 target
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.
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OMIM: 615751


carbonic anhydrase 5A
Drugs:  carglumic acid
Comments:  Carglumic acid can improve neurologic symptoms (hyperammonemic encephalopathy).
References:  1


No ligand related data available for Hyperammonemia due to carbonic anhydrase VA deficiency


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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]