Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature.

Volume: 47, Issue: 9, Pages: 1751 - 1762
Published: Jun 27, 2015
Abstract
Hyperargininemia is caused by deficiency of arginase 1, which catalyzes the hydrolysis of l-arginine to urea as the final enzyme in the urea cycle. In contrast to other urea cycle defects, arginase 1 deficiency usually does not cause catastrophic neonatal hyperammonemia but rather presents with progressive neurological symptoms including seizures and spastic paraplegia in the first years of life and hepatic pathology, such as neonatal...
Paper Details
Title
Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature.
Published Date
Jun 27, 2015
Volume
47
Issue
9
Pages
1751 - 1762
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