Propionic acidemia in the newborn.
نویسندگان
چکیده
Propionic acidemia is a rare, autosomal, recessively inherited inborn error of propionate metabolism. It presents most often as a neonatal life threatening emergency with metabolic acidosis, hyperammonemia, hyperglycinemia and hyper gylcinuria. Since its first description in a male infant with episodic metabolic acidosis and hyperglycinemia(l), more than 100 cases have been reported. The present communication reports the course of a neonate with propionic acidemia.
منابع مشابه
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ورودعنوان ژورنال:
- Indian pediatrics
دوره 34 7 شماره
صفحات -
تاریخ انتشار 1997