Acknowledgements
This work was supported by Public Health Service Grant R01DK064913 from the National Institutes of Health, Recordati Rare Diseases, Inc, and the Rashid Family Foundation. Work on urea cycle disorders is supported by the Swiss National Science Foundation (grant 320030_176088 to JH). Mutation analysis for NAGSD at the Zurich laboratory is supported by Recordati Rare Diseases. Whole genome sequencing of DNA from case 1 was supported by the Utah Genome project. We are grateful for the support and resources from the Center for High Performance Computing at the University of Utah for computational analysis of case 1.