Delayed Diagnosis of Hunter Syndrome

Hunter syndrome is a rare but serious genetic disorder that inhibits the body’s ability to break down specific complex carbohydrates. Initial onset symptoms include inguinal hernias, recurrent otitis, and the common cold, frequently manifesting concurrently as part of a multi-system failure sometime after the first year of life. Because many of these symptoms are common in infants, physicians often do not suspect Hunter syndrome, yet treatment for the disease is much more effective when administered early in its progression. How can we minimize the delay typically associated with diagnosis of Hunter syndrome? Dr. Joseph Muenzer, professor of pediatrics and genetics at the University of North Carolina School of Medicine, and one of the world’s leading authorities in Hunter syndrome research, joins host Dr. Mark Nolan Hill to share his expertise.