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

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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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 [email protected]. Check out http://www.pedscrit.com for detailed show notes. And visit @critpeds on twitter and @pedscrit on instagram for real time show updates.