Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency [PDF]
Biomedicines, 2023 Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder with high unmet needs, as current dietary and medical treatments may not be sufficient to prevent hyperammonemic episodes, which can cause death or neurological sequelae.
Berna Seker Yilmaz, Paul Gissen
doaj +6 more sources
Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes [PDF]
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 +3 more sources
Antepartum Ornithine Transcarbamylase Deficiency
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
Ken Miura +2 more
exaly +4 more sources
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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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
doaj +3 more sources
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency [PDF]
Life, 2022 X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy.
Berna Seker Yilmaz +43 more
doaj +5 more sources
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study [PDF]
Molecular Genetics and Metabolism Reports, 2023 Ornithine transcarbamylase deficiency (OTCD) is an X-linked defect of ureagenesis and the most common urea cycle disorder. Patients present with hyperammonemia causing neurological symptoms, which can lead to coma and death. Liver transplantation (LT) is
Berna Seker Yilmaz +25 more
doaj +2 more sources
Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency [PDF]
Children, 2023 Ornithine transcarbamylase deficiency (OTCD) is the most common inherited disorder of the urea cycle and, in general, is transmitted as an X-linked recessive trait.
Majitha Seyed Ibrahim +5 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
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