PedsCrit

Disorders of Metabolism with Dr. Deb Regier (Part 1)

Oct 14, 2024
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.
Ask episode
Chapters
Transcript
Episode notes