Ornithine Transcarbamylase Deficiency

About the Disease
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to, also known as ornithine carbamoyltransferase deficiency, is related to carbonic anhydrase va deficiency, hyperammonemia due to and abdominal obesity-metabolic syndrome 1, and has symptoms including lethargy, seizures and vomiting. An important gene associated with Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to is OTC (Ornithine Transcarbamylase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Prednisolone phosphate and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include Liver, brain and prefrontal cortex, and related phenotypes are splenomegaly and aminoaciduria

Common Targets
DAO | PCSK9 | ASL | NAGS | ASS1 | Histone deacetylase (nonspecified subtype) | OTC

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