Antepartum Ornithine Transcarbamylase Deficiency [PDF]
Case Reports in Gastroenterology, 2014 Ornithine transcarbamylase deficiency (OTCD) is the most common type urea cycle enzyme deficiencies. This syndrome results from a deficiency of the mitochondrial enzyme ornithine transcarbamylase, which catalyzes the conversion of ornithine and carbamoyl
Hitoshi Nakajima +9 more
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Hepatocellular Adenoma in a Patient with Ornithine Transcarbamylase Deficiency
Case Reports in Hepatology, 2019 Ornithine transcarbamylase (OTC) deficiency is an X-linked recessive disorder that leads to hyperammonemia and liver damage. Hepatocellular adenoma in OTC deficiency patients has not been previously described.
Lin Cheng +4 more
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Establishment and evaluation of a method for measuring ornithine transcarbamylase activity in micro blood of neonates [PDF]
Orphanet Journal of Rare DiseasesBackground Ornithine transcarbamylase deficiency exhibits a high degree of clinical heterogeneity, making its screening and classification challenging in some instances. In this study, we first established a simple and stable method for testing ornithine
Zhilei Zhang +9 more
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Subdural Abscess From Acute Sinusitis in a Patient With Ornithine Transcarbamylase Deficiency [PDF]
Clinical Case ReportsPatients with ornithine transcarbamylase deficiency (OTCD) are at risk for infection‐associated hyperammonemia due to a combination of local ammonia formation by the bacteria themselves and acute metabolic failure, and febrile OTCD patients should be ...
Yuya Ito +3 more
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Adult Onset Ornithine Transcarbamylase Deficiency: A Rare Cause of Psychosis [PDF]
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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Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency
Annals of Clinical and Translational Neurology, 2022 Objective Ornithine transcarbamylase deficiency (OTC‐D) is an X‐linked metabolic disease and the most common urea cycle disorder. Due to high phenotypic heterogeneity, ranging from lethal neonatal hyperammonemic events to moderate symptoms and even ...
Svenja Scharre +12 more
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SAGE Open Medical Case Reports, 2014 Introduction: Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle, has a variable phenotype, and is caused by mutations in the OTC gene.
Eric T Rush +3 more
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Structural analysis and molecular substrate recognition properties of Arabidopsis thaliana ornithine transcarbamylase, the molecular target of phaseolotoxin produced by Pseudomonas syringae [PDF]
Frontiers in Plant Science, 2023 Halo blight is a plant disease that leads to a significant decrease in the yield of common bean crops and kiwi fruits. The infection is caused by Pseudomonas syringae pathovars that produce phaseolotoxin, an antimetabolite which targets arginine ...
Maciej Nielipinski +3 more
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Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature [PDF]
Journal of Medical Case Reports, 2010 Introduction Ornithine transcarbamylase deficiency is the most common hereditary urea cycle defect. It is inherited in an X-linked manner and classically presents in neonates with encephalopathy and hyperammonemia in males.
Kirk Edwin P +3 more
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Targeted mRNA Therapy for Ornithine Transcarbamylase Deficiency
Molecular Therapy, 2018 We describe a novel, two-nanoparticle mRNA delivery system and show that it is highly effective as a means of intracellular enzyme replacement therapy (i-ERT) using a murine model of ornithine transcarbamylase deficiency (OTCD).
Debashish Roy +2 more
exaly +2 more sources