Inborn disorder of ornithine or proline metabolism

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study follows 46 people with gyrate atrophy, a rare genetic condition that causes vision loss, over 4 years. Researchers measure ornithine levels in the blood and track changes in the retina using eye scans and photos. The goal is to learn how the disease progresses under st…