Hyperammonemia

About the Disease
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to, also known as hyperammonemia due to carbonic anhydrase va deficiency, is related to ornithine transcarbamylase deficiency, hyperammonemia due to and hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, 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 Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and bone marrow, and related phenotypes are global developmental delay and hypoglycemia

Common Targets
TMEM70 | FFAR1 | DAO | CA5A | CPS1 | CCN2 | NR1I2 | NAGS | GPR84 | NF-kappaB (NFkB) | LOC105371642 | GLUL | SIRT5 | OTC | ZNF648

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