New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.


Ornithine transcarbamylase (OTC) (E.C. is an X-linked hepatic enzyme in the urea cycle necessary for ammonia detoxification. Deficiency of OTC results in neonatal hyperammonemia, coma, and death in childhood. Because fibroblasts do not express OTC, prenatal diagnosis in the past has required fetal liver biopsy. Using a complementary DNA (cDNA) for… (More)


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