Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.

@article{Carvalho2012AnalysisON,
  title={Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.},
  author={Daniel Rocha Carvalho and Guilherme Dotto Brand and Jaime Moritz Brum and Reinaldo Issao Takata and Carlos Eduardo Speck-Martins and Riccardo Pratesi},
  journal={Gene},
  year={2012},
  volume={509 1},
  pages={124-30}
}
Hyperargininemia (HA) is an autosomal recessive disease that typically has a clinical presentation that is distinct from other urea cycle disorders. It is caused by the deficient activity of the enzyme arginase I, encoded by the gene ARG1. We screened for ARG1 mutations and measured erythrocyte enzyme activity in a series of 16 Brazilian HA patients. Novel mutations, in addition to previously described missense mutations, were analysed for their effect on the structure, stability and/or… CONTINUE READING