Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency — Definition

Karbonik anhidraz VA eksikliğine bağlı hiperamonemik ensefalopati; carbonic anhydrase is a metabolic disease characterized by an overdose of ammonia in the blood (hyeramonemia). This lack of enzyme prevents the detoxification of the amonia by disrupting the activity of N-acetilglutamate centase, which is responsible for the urea cycle. Clinically manifests itself with the findings of encephalopathy such as letargia, vomiting, hypotoni, seizures and loss of consciousness. If early diagnosis and untreated, permanent neurological damage or death can lead.

The Turkish equivalent of "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency" is Karbonik anhidraz VA eksikliğine bağlı hiperamonemik ensefalopati.

This term belongs to the Diseases category.