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- Q3043161 subject Q7010350.
- Q3043161 subject Q7031586.
- Q3043161 subject Q7215445.
- Q3043161 subject Q7824736.
- Q3043161 abstract "Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase, the defective enzyme in this disorder is the final enzyme in the proximal portion of the urea cycle, responsible for converting carbamoyl phosphate and ornithine into citrulline. OTC deficiency is inherited in an X-linked recessive manner, meaning males are more commonly affected than females. In severely affected individuals, ammonia concentrations increase rapidly causing ataxia, lethargy and death without rapid intervention. OTC deficiency is diagnosed using a combination of clinical findings and biochemical testing, while confirmation is often done using molecular genetics techniques. Once an individual has been diagnosed, the treatment goal is to avoid precipitating episodes that can cause an increased ammonia concentration. The most common treatment combines a low protein diet with nitrogen scavenging agents. Liver transplant is considered curative for this disease. Experimental trials of gene therapy resulted in the death of one participant and have been discontinued.".
- Q3043161 icd10 "E72.4".
- Q3043161 icd9 "270.6".
- Q3043161 meshId "D020163".
- Q3043161 omim "311250".
- Q3043161 thumbnail L-Ornithine_structure.svg?width=300.
- Q3043161 wikiPageExternalLink www.nucdf.org.
- Q3043161 wikiPageWikiLink Q1136569.
- Q3043161 wikiPageWikiLink Q12119506.
- Q3043161 wikiPageWikiLink Q1368191.
- Q3043161 wikiPageWikiLink Q14859893.
- Q3043161 wikiPageWikiLink Q1547640.
- Q3043161 wikiPageWikiLink Q15637420.
- Q3043161 wikiPageWikiLink Q1585743.
- Q3043161 wikiPageWikiLink Q1640386.
- Q3043161 wikiPageWikiLink Q1640868.
- Q3043161 wikiPageWikiLink Q173670.
- Q3043161 wikiPageWikiLink Q18207010.
- Q3043161 wikiPageWikiLink Q193447.
- Q3043161 wikiPageWikiLink Q1988987.
- Q3043161 wikiPageWikiLink Q207722.
- Q3043161 wikiPageWikiLink Q213373.
- Q3043161 wikiPageWikiLink Q213901.
- Q3043161 wikiPageWikiLink Q2825818.
- Q3043161 wikiPageWikiLink Q30612.
- Q3043161 wikiPageWikiLink Q343357.
- Q3043161 wikiPageWikiLink Q391744.
- Q3043161 wikiPageWikiLink Q39572.
- Q3043161 wikiPageWikiLink Q408641.
- Q3043161 wikiPageWikiLink Q410198.
- Q3043161 wikiPageWikiLink Q412486.
- Q3043161 wikiPageWikiLink Q424409.
- Q3043161 wikiPageWikiLink Q425536.
- Q3043161 wikiPageWikiLink Q49117.
- Q3043161 wikiPageWikiLink Q576349.
- Q3043161 wikiPageWikiLink Q595994.
- Q3043161 wikiPageWikiLink Q61333.
- Q3043161 wikiPageWikiLink Q622527.
- Q3043161 wikiPageWikiLink Q7010350.
- Q3043161 wikiPageWikiLink Q7031586.
- Q3043161 wikiPageWikiLink Q7103623.
- Q3043161 wikiPageWikiLink Q7215445.
- Q3043161 wikiPageWikiLink Q7824736.
- Q3043161 wikiPageWikiLink Q8047.
- Q3043161 wikiPageWikiLink Q898914.
- Q3043161 icd "270.6".
- Q3043161 icd "E72.4".
- Q3043161 meshid "D020163".
- Q3043161 name "Ornithine transcarbamylase deficiency".
- Q3043161 omim "311250".
- Q3043161 type Disease.
- Q3043161 type Thing.
- Q3043161 type Q12136.
- Q3043161 comment "Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase, the defective enzyme in this disorder is the final enzyme in the proximal portion of the urea cycle, responsible for converting carbamoyl phosphate and ornithine into citrulline. OTC deficiency is inherited in an X-linked recessive manner, meaning males are more commonly affected than females.".
- Q3043161 label "Ornithine transcarbamylase deficiency".
- Q3043161 depiction L-Ornithine_structure.svg.
- Q3043161 name "Ornithine transcarbamylase deficiency".