Disorders of Metabolism with Dr. Deb Regier (1/2)

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.

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Intro

00:00 • 4min

Metabolic Pathways in Pediatric Care: Emphasizing Rare Diseases

04:01 • 5min

Managing Metabolic Emergencies

09:06 • 17min

Understanding Amino Acid Metabolism and Disorders

25:56 • 14min

Advancements in Neonatal Dialysis Safety

40:00 • 1min

Fluid and Electrolyte Management in Metabolic Disorders

41:27 • 6min

About our Guest:

Debra Regier, M.D., Ph.D., is the chief of Genetics and Metabolism at Children's National Hospital in Washington, DC. Before transitioning to clinical medicine, Dr. Regier was a biochemist. She came to CNH as a combined pediatric genetics resident and later completed a metabolic fellowship at NIH and served as Children's National's medical genetics program director.

Dr. Regier’s current work in educational outcomes research has led to federal, industry, and philanthropic funding of almost two million dollars. She has received multiple awards for her impact on rare disease education across the country and is the president-elect of the Society of Inherited Metabolic Disorders.

Learning Objectives:

By the end of this podcast, listeners should be able to:

1. List the three main metabolic pathways and describe how they work together to make ATP

2. Describe the science behind the main diagnostic tests for inborn errors of metabolism

3. Explain the presenting symptoms and initial management of common, life-threatening inborn errors of metabolism.

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Please remember that all content during this episode is intended for educational and entertainment purposes only. It should not be used as medical advice. The views expressed during this episode by hosts and our guests are their own and do not reflect the official position of their institutions. If you have any comments, suggestions, or feedback-you can email us at pedscritpodcast@gmail.com. You can also check out our website at http://www.pedscrit.com. Thank you for listening to this episode of PedsCrit!