OTC Deficiency Study
Rochester, MN
The objectives of this study are to perform genomic testing and trio analysis on specimens from three deceased patients with partial OTC deficiency who died unexpectedly while receiving treatment, along with testing on blood from their 5 parents, to determine whether there were any other genetic factors that may have contributed to sudden, unexpected death of the patient. In addition, medical records analysis and case summary would be carried out for all deceased patients with known partial OTC deficiency.
To consider whether further investigation into the pathogenesis of OTC deficiency is warranted to find previously unidentified risk ...