AI Article Synopsis
- Ornithine transcarbamylase (OTC) deficiency is the most common disorder affecting the urea cycle, which can lead to serious health issues like brain damage and even death if untreated.
- The condition is caused by genetic mutations in the OTC gene and has varying symptoms depending on the age of onset and severity.
- The overview also discusses diagnostic testing and provides treatment guidelines, especially for both carrier females and affected male newborns throughout their prenatal, natal, and postpartum phases.
Article Abstract
Ornithine transcarbamylase deficiency is the most common urea cycle disorder. If left untreated, pathogenic variants in the OTC gene can cause hyperammonemia leading to neurotoxicity, coma, and death. A comprehensive overview of ornithine transcarbamylase deficiency is presented including the genetic cause; varied age of onset, clinical presentation, and severity; diagnostic testing; and lifelong and anticipated future treatments. More specifically, there is a focus on the prenatal, natal, and postpartum course and treatment recommendations for genetic heterozygous (carrier) females and hemizygous male newborns with ornithine transcarbamylase deficiency.
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| http://dx.doi.org/10.1097/NMC.0000000000001057 | DOI Listing |
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