Results 11 to 20 of about 3,709 (187)
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, William B Rizzo
exaly +3 more sources
Ornithine transcarbamylase deficiency diagnosed in pregnancy
Gynecological Endocrinology, 2011 Urea cycle enzymes deficiencies are rare metabolic disorders. Ornithine transcarbamylase (OTC) deficiency is the most common type. The syndrome results from a deficiency of the mitochondrial enzyme OTC which catalyses the conversion of ornithine and carbamoyl phosphate to citrulline.
Özlem Çelik
exaly +5 more sources
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
doaj +2 more sources
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
doaj +2 more sources
Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations [PDF]
Case Reports in Women's Health, 2022 Background: Ornithine transcarbamylase deficiency (OTCD) is a rare disorder of the urea cycle that obstetricians should be aware of in order to guide management for pregnant carriers of the X-linked gene that causes the condition.
Gabriella Pinho +6 more
doaj +2 more sources
Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency [PDF]
Molecular Genetics and Metabolism Reports, 2022 We report on a family with ornithine transcarbamylase (OTC) deficiency, an X-linked urea cycle disorder, with variable disease severity and tailored management strategies based on each family member's biochemical profile and clinical presentation.
Joshua Baker +5 more
doaj +2 more sources
Effect of Ornithine Transcarbamylase (OTC) Deficiency on Pregnancy and Puerperium
Diagnostics, 2022 Ornithine transcarbamylase (OTC) deficiency is the most common inherited metabolic disorder in urea cycles with an incidence of 1:14,000 live births.
Rastislav Sysák +5 more
doaj +2 more sources
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
doaj +2 more sources
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency [PDF]
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
doaj +2 more sources
Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD). [PDF]
PLoS ONE, 2016 BACKGROUND:Acute liver failure (ALF) has been reported in ornithine transcarbamylase deficiency (OTCD) and other urea cycle disorders (UCD). The frequency of ALF in OTCD is not well-defined and the pathogenesis is not known.
Alexander Laemmle +7 more
doaj +3 more sources