PRENATAL TREATMENT OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY
Molecular Genetics and Metabolism(2014)
摘要
Prenatal treatment of mothers who harbor severe OTCD mutations and carry affected male fetuses with intravenous Ammonul and arginine, followed by immediate institution of maintenance infusions after delivery, results in therapeutic levels of benzoate and phenylacetate in the newborn at delivery and, in conjunction with high-caloric enteral nutrition, prevents acute hyperammonemia and neurological decompensation. Following initial medical management, early liver transplantation may improve developmental outcome.
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关键词
OTC deficiency,Nitrogen-scavenging medication,Prenatal treatment,Neurological outcome,Liver transplantation
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