Children's National Geneticist Featured on Exploration Health Covering Urea Cycle Disorder
October 06, 2015
Exploration Health covers the latest breakthroughs and innovation in medicine and disease awareness. In this episode, genetic pioneer Marshall Summar, MD, Center for Neuroscience and Behavioral Medicine, covers Urea Cycle disorder, which is a disease caused by the lack of one or more enzymes of the urea cycle pathway. Due to the lack of enzymes, ammonia can buildup in the system, which may lead to cerebral edema, lethargy, anorexia, hypothermia, seizures, and coma. A family from Rockville, MD is featured in the story, covering their experience with Urea Cycle Disorder in their newborn.
Watch the episode, here.