Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to (CA5AD)

Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to, also known as hyperammonemia due to carbonic anhydrase va deficiency, is related to hyperammonemic encephalopathy due to carbonic anhydrase va deficiency and carbonic anhydrase va deficiency, and has symptoms including polydipsia, muscle weakness and lethargy. An important gene associated with Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to is CA5A (Carbonic Anhydrase 5A), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Carbamide peroxide and Rifamycin have been mentioned in the context of this disorder. Affiliated tissues include liver and brain, and related phenotypes are global developmental delay and hypoglycemia