Debra Regier

In this discussion, Debra Regier, M.D., Ph.D., Chief of Genetics and Metabolism at Children's National Hospital, dives into the complexities of metabolic disorders. She explains how triglycerides convert to energy and the critical roles of carnitine and fatty acid oxidation. The podcast highlights the importance of recognizing unusual smells in diagnosing conditions like maple syrup urine disease. Dr. Regier also emphasizes the need for a collaborative approach in managing these disorders, particularly in pediatric care, addressing the unique challenges families face.

In this discussion, Dr. Debra Regier, Chief of Genetics and Metabolism at Children's National Hospital, shares her expertise on the complexities of inborn errors of metabolism. She emphasizes critical metabolic pathways vital for energy production and the nuances of newborn screening. The conversation then shifts to managing metabolic emergencies, focusing on lactate and ammonia levels. Additionally, Dr. Regier highlights specific disorders like PKU and GA1, outlining urgent care strategies and advancements in neonatal dialysis safety.