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Adult Onset Ornithine Transcarbamylase Deficiency: A Rare Cause of Psychosis
BJPsych OpenAims Ornithine transcarbamylase (OTC) is an enzyme of the urea cycle catalyzing the condensation of carbamyl phosphate and ornithine to form citrulline. OTC deficiency leads to elevated serum ammonia and presents as different neurological or psychiatric
Hoi Ying Choi
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BMC Pregnancy and ChildbirthBackground Ornithine carbamoyltransferase deficiency (OTCD) is a kind of X-linked metabolic disease caused by a deficiency in ornithine transcarbamylase leading to urea cycle disorders.
Yao Zhou +5 more
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A late-onset Ornitin Transcabamylase deficiency case as an organic psychosis
European Psychiatry, 2022 Introduction Ornithine transcarbamylase (OTC) deficiency is the most frequent congenital defect among the urea cycle enzymatic disorders, due to mutations a!ecting the OTC gen (Xp21.1) that are inherited with an X-linked pattern.
M.J. Mateos Sexmero, J.A. Blanco
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Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency [PDF]
Korean Journal of Pediatrics, 2011 Ornithine transcarbamylase (OTC) deficiency is well known as the most common inherited disorder of the urea cycle, and 1 of the most common causes of hyperammonemia in newborns.
Hyo Jeong Kim +6 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2022 We report on pregnancy management and outcomes in a 27-year-old female patient with ornithine transcarbamylase (OTC) deficiency, the most common inherited enzyme deficiency in the urea cycle.
Annette Feigenbaum +2 more
doaj +1 more source
Biocomputational frameworks for exploring ornithine transcarbamylase mutations in OTC deficiency psychosis. [PDF]
Ann Med Surg (Lond)Shahab SH, Habib F.
europepmc +3 more sources
Hepatology, EarlyView., 2022 Mesenchymal stem cells subset, educated by TNF‐α, are involved to generate inflammatory microenvironment and promote hepatocarcinogenesis Abstract Background and Aims Increasing evidence suggests that mesenchymal stem cells (MSCs) home to injured local tissues and the tumor microenvironment in the liver.
Chen Zong +9 more
wiley +1 more source
Ornithine Transcarbamylase – From Structure to Metabolism: An Update
Frontiers in Physiology, 2021 Ornithine transcarbamylase (OTC; EC 2.1.3.3) is a ubiquitous enzyme found in almost all organisms, including vertebrates, microorganisms, and plants. Anabolic, mostly trimeric OTCs catalyze the production of L-citrulline from L-ornithine which is a part ...
Morgane Couchet +7 more
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Ornithine Transcarbamylase Deficiency in Iranian Children [PDF]
Iranian Journal of Public Health, 2003 Ammonia is a toxic material for mammalians. It is detoxificated and converted to urea in the urea cycle in liver. Each defect in the urea cycle cause increase in blood ammonia level.
HR Joshaghani +2 more
doaj +1 more source
Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene [PDF]
FEBS Letters, 1991 We introduced rat ornithine transcarbumylase (OTC) gene into OTC‐deficient spf‐ash mice by mating spf‐ash heterozygotes with transgenic mice which carried recombinant DNA composed of 1.3 kb of the 5′ flanking region of the gene fused onto rat OTC cDNA. The liver OTC activity of hemizygous spf‐ash mice which carried the transgene was about twice that of
Shimada, Tokihiko +7 more
openaire +2 more sources