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- Ornithine_transcarbamylase_deficiency 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.".
- Ornithine_transcarbamylase_deficiency diseasesdb "9286".
- Ornithine_transcarbamylase_deficiency emedicineSubject "ped".
- Ornithine_transcarbamylase_deficiency emedicineTopic "2744".
- Ornithine_transcarbamylase_deficiency icd10 "E72.4".
- Ornithine_transcarbamylase_deficiency icd9 "270.6".
- Ornithine_transcarbamylase_deficiency medlineplus "000372".
- Ornithine_transcarbamylase_deficiency meshId "D020163".
- Ornithine_transcarbamylase_deficiency omim "311250".
- Ornithine_transcarbamylase_deficiency thumbnail L-Ornithine_structure.svg?width=300.
- Ornithine_transcarbamylase_deficiency wikiPageExternalLink www.nucdf.org.
- Ornithine_transcarbamylase_deficiency wikiPageID "1086440".
- Ornithine_transcarbamylase_deficiency wikiPageRevisionID "603698042".
- Ornithine_transcarbamylase_deficiency caption Ornithine.
- Ornithine_transcarbamylase_deficiency diseasesdb "9286".
- Ornithine_transcarbamylase_deficiency emedicinesubj "ped".
- Ornithine_transcarbamylase_deficiency emedicinetopic "2744".
- Ornithine_transcarbamylase_deficiency hasPhotoCollection Ornithine_transcarbamylase_deficiency.
- Ornithine_transcarbamylase_deficiency icd "270.6".
- Ornithine_transcarbamylase_deficiency icd "E72.4".
- Ornithine_transcarbamylase_deficiency medlineplus "372".
- Ornithine_transcarbamylase_deficiency meshid "D020163".
- Ornithine_transcarbamylase_deficiency name "Ornithine transcarbamylase deficiency".
- Ornithine_transcarbamylase_deficiency omim "311250".
- Ornithine_transcarbamylase_deficiency wordnet_type synset-disease-noun-1.
- Ornithine_transcarbamylase_deficiency subject Category:Amino_acid_metabolism_disorders.
- Ornithine_transcarbamylase_deficiency subject Category:Genetic_disorders.
- Ornithine_transcarbamylase_deficiency subject Category:Urea_cycle.
- Ornithine_transcarbamylase_deficiency subject Category:X-linked_recessive_disorders.
- Ornithine_transcarbamylase_deficiency type Abstraction100002137.
- Ornithine_transcarbamylase_deficiency type AminoAcidMetabolismDisorders.
- Ornithine_transcarbamylase_deficiency type Attribute100024264.
- Ornithine_transcarbamylase_deficiency type Condition113920835.
- Ornithine_transcarbamylase_deficiency type Disease114070360.
- Ornithine_transcarbamylase_deficiency type Disorder114052403.
- Ornithine_transcarbamylase_deficiency type IllHealth114052046.
- Ornithine_transcarbamylase_deficiency type Illness114061805.
- Ornithine_transcarbamylase_deficiency type PathologicalState114051917.
- Ornithine_transcarbamylase_deficiency type PhysicalCondition114034177.
- Ornithine_transcarbamylase_deficiency type State100024720.
- Ornithine_transcarbamylase_deficiency type Disease.
- Ornithine_transcarbamylase_deficiency type AilmentCondition.
- Ornithine_transcarbamylase_deficiency type Situation.
- Ornithine_transcarbamylase_deficiency 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.".
- Ornithine_transcarbamylase_deficiency label "Deficiência da ornitina transcarbamilase".
- Ornithine_transcarbamylase_deficiency label "Déficit en ornithine carbamyl transférase".
- Ornithine_transcarbamylase_deficiency label "Ornithine transcarbamylase deficiency".
- Ornithine_transcarbamylase_deficiency sameAs OTC_urritasun.
- Ornithine_transcarbamylase_deficiency sameAs Déficit_en_ornithine_carbamyl_transférase.
- Ornithine_transcarbamylase_deficiency sameAs Deficiência_da_ornitina_transcarbamilase.
- Ornithine_transcarbamylase_deficiency sameAs m.044sfd.
- Ornithine_transcarbamylase_deficiency sameAs Q3043161.
- Ornithine_transcarbamylase_deficiency sameAs Q3043161.
- Ornithine_transcarbamylase_deficiency sameAs 868.
- Ornithine_transcarbamylase_deficiency sameAs Ornithine_transcarbamylase_deficiency.
- Ornithine_transcarbamylase_deficiency wasDerivedFrom Ornithine_transcarbamylase_deficiency?oldid=603698042.
- Ornithine_transcarbamylase_deficiency depiction L-Ornithine_structure.svg.
- Ornithine_transcarbamylase_deficiency isPrimaryTopicOf Ornithine_transcarbamylase_deficiency.
- Ornithine_transcarbamylase_deficiency name "Ornithine transcarbamylase deficiency".
