Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy.

Abstract excerpt

Objectives Carbonic anhydrase VA (CAVA) deficiency is a rare autosomal recessive inborn error of metabolism that leads to acute metabolic crises, especially in the neonatal or infantile period. It is caused by a deficiency of the enzyme CAVA, which is encoded by the CA5A gene. Case presentation Fifteen patients with homozygous pathogenic CA5A mutations involving 10 different lesions have been reported in the...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Brain Diseases
• Share to Hyperammonemia