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Podcast: It Happened To Me: A Rare Disease and Medical Challenges Podcast
Episode: #68 The Hidden Danger in Newborns: OTC Deficiency Explained by a Geneticist and a Mother
Description: In this episode of It Happened To Me, we share a story of love, loss, and advocacy in the rare disease community.
We are joined by Jordan Kruse, whose son, Pruitt, was born with ornithine transcarbamylase (OTC) deficiency, and Dr. Susan Berry, a geneticist at M Health Fairview and professor at the University of Minnesota Medical School, who specializes in rare metabolic disorders like OTC deficiency and helped Pruitt.Â
OTC deficiency is a rare urea cycle disorder (UCD) that prevents the body from properly removing ammonia from the blood. This dangerous buildup can cause severe c...