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Ornithine transcarbamylase deficiency

Ornithine carbamoyltransferase deficiency
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Ornithine transcarbamylase deficiency" returned 2 free, full-text review articles. First 2 results:
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
Last Updated: Nov 13, 2018

Ornithine transcarbamylase (OTC) deficiency is an X-linked trait that accounts for nearly half of all inherited disorders of the urea cycle. OTC is one of the enzymes common to both the urea cycle and the bacterial arginine biosynthesis pathway; however, the role of OTC has changed ...

Management of ornithine transcarbamylase deficiency in pregnancy.
Last Updated: Oct 14, 2010

Ornithine transcarbamylase (OTC) deficiency is the most common enzymatic deficiency in the urea cycle. In catabolic states, such as the intrapartum and immediate postpartum periods, hyperammonemic comas with permanent neurological damage and death can develop. We report six cases ...

Ornithine transcarbamylase deficiency: a urea cycle defect.
Last Updated: Nov 07, 2019

The symptoms and signs of ornithine transcarbamylase deficiency are discussed. When the condition occurs among males in the neonatal period it is likely to be lethal. Pathological findings are non-specific. The diagnosis should be considered if coma with cerebral oedema and respiratory ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Ornithine transcarbamylase deficiency" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Ornithine transcarbamylase deficiency" returned 69 free, full-text research articles. First few results:
Clinical and cranial MRI features of female patients with ornithine transcarbamylase deficiency: Two case reports.
Last Updated: Nov 20, 2019

Ornithine transcarbamylase deficiency (OTCD) is a common metabolic disease of urea circulation disorder. We reported the clinical, brain imaging and genetic characteristics of 2 cases with OTCD. The patients' clinical features, novel gene mutations, cranial MR specific imaging changes ...

Application of graft-derived cell-free DNA in ornithine transcarbamylase deficiency patient after living donor liver transplantation: Two case reports.
Last Updated: Jan 25, 2019

Graft-derived-cell-free DNA (Gcf-DNA) in plasma was a promising biomarker to monitor graft-rejection after liver transplantation. However, little is known about the application of Gcf-DNA in living-donor-liver-transplantation (LDLT).

Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency.
Last Updated: May 28, 2019

A 52-year-old woman developed vomiting and disturbance of consciousness after consuming raw fish and sushi on a trip. A blood test showed hyperammonemia (310 μg/dL) with a normal liver function. She fell into a deep coma, and her serum ammonia level increased to 684 μg/dL. L-arginine ...

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69 Free Research Articles 332 Research Articles