Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8344207 | Molecular Genetics and Metabolism | 2011 | 5 Pages |
Abstract
Several biochemical abnormalities have been postulated to play a role in the pathogenesis of the neurological changes in ARG1 deficiency including hyperargininemia, elevated guanidino compounds and elevated glutamine levels, as well as the hyperammonemia. The index case demonstrated many of these. The cases reviewed here suggest a genotype/phenotype correlation and advocate for the addition of arginine as a primary target in newborn screening programs.
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Authors
Shailly Jain-Ghai, Sandesh C. Sreenath Nagamani, Susan Blaser, Komudi Siriwardena, Annette Feigenbaum,