Disorders of Metabolism with Dr. Deb Regier (Part 2)

Oct 21, 2024

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.

Ask episode

Chapters

Transcript

Episode notes

Intro

00:00 • 4min

The Critical Role of Fatty Acid Oxidation in Energy Production and Risks of Disorder

04:13 • 4min

Navigating Metabolic Disorders: Challenges and Solutions

08:17 • 14min

The Role of Smell in Diagnosing Metabolic Disorders

21:57 • 2min

Navigating Metabolism and Rare Diseases in Pediatric Care

23:56 • 4min

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.

Questions, comments or feedback? Please send us a message at this link (leave email address if you would like us to relpy) Thanks! -Alice & Zac

Support the show

How to support PedsCrit:
Please complete our Listener Feedback Survey
Please rate and review on Spotify and Apple Podcasts!
Donations are appreciated @PedsCrit on Venmo , you can also support us by becoming a patron on Patreon. 100% of funds go to supporting the show.

Thank you for listening to this episode of PedsCrit. 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. Check out http://www.pedscrit.com for detailed show notes. And visit @critpeds on twitter and @pedscrit on instagram for real time show updates.