Results 11 to 20 of about 482,563 (236)
Clinical and Translational Discovery, 2022 Ornithine transcarbamylase (OTC) catalyses the reaction from ornithine to citrulline in the urea cycle. Ornithine transcarbamylase deficiency (OTCD) results in episodes of hyperammonemia.
Hailong Yu +16 more
doaj +3 more sources
Hyperammonemic coma in a patient with late-onset OTC deficiency
La Pediatria Medica e Chirurgica, 2014 Urea Cycle Disorders ( UCD ) are among the most common genetic diseases of the metabolism and ornithine transcarbamylase deficiency (OTC), an X-linked defect is the most frequent among them.
V. D’Onofrio +5 more
doaj +5 more sources
Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes
Molecular Genetics and Metabolism Reports, 2022 Urea cycle disorders (UCDs) are a group of rare inherited metabolic conditions caused by enzyme deficiency within the hepatic ammonia detoxification pathway.
Annette Feigenbaum
doaj +2 more sources
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
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
Molecular Genetics and Metabolism Reports, 2022 We report the case of a medically complex African American adult female with ornithine transcarbamylase (OTC) deficiency diagnosed after lifelong protein aversion and new onset of chronic vomiting and abdominal pain with intermittent lethargy and ...
Jessica Abbott +2 more
doaj +2 more sources
Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again [PDF]
Case Reports in Critical Care, 2017 Ornithine transcarbamylase (OTC) deficiency is well known for its diagnosis in the neonatal period. Presentation often occurs after protein feeding and manifests as poor oral intake, vomiting, lethargy progressing to seizure, respiratory difficulty, and ...
Christan D. Santos +4 more
doaj +2 more sources
OTC gene duplication as the possible cause of massive hyperammonaemia with a fatal prognosis
Molecular Genetics and Metabolism ReportsOrnithine transcarbamylase (OTC) deficiency is the most common urea cycle disorder. It may occur due to various changes to the OTC gene located on the X chromosome. Many sequence variants in the OTC gene result in different severity and require different
Borkowska Natalia +11 more
doaj +2 more sources
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1995 We report the effect of the ornithine transcarbamylase (OTC) transgene composed of 1.3 kb of the 5' flanking region of the rat OTC gene fused to rat OTC cDNA on urinary orotic acid excretion in OTC-deficient spf-ash (sparse-fur with abnormal skin and ...
Obara, Touru +8 more
core +3 more sources
Phenotypes of undiagnosed adults with actionable OTC and GLA variants
HGG Advances, 2023 Summary: Inherited metabolic disorders (IMDs) are variably expressive, complicating identification of affected individuals. A genotype-first approach can identify individuals at risk for morbidity and mortality from undiagnosed IMDs and can lead to ...
Jessica I. Gold +11 more
doaj +2 more sources