Inborn defects of urea cycle often results in life-threatening hyperammonemia in neonates. The initial therapy of this disease comprises administration of benzoate sodium, arginine, lactulose, neomycin, and restrictive alimentation based on carbohydrates. Renal replacement therapy for ammonia removal should be considered for the most severe cases. We present a case report of two neonates with very rare inborn urea cycle disorders--deficiency of argininosuccinate lyase and carbamyl-phosphate synthetase, treated with spontaneous arterio-venous haemodiafiltration.
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Characterization of a novel conditional knockout mouse model to assess efficacy of mRNA therapy in the context of severe ornithine transcarbamylase deficiency.
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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.
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