PedsCrit
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.
27:46
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Quick takeaways
- Fatty acid oxidation disorders can cause severe metabolic issues due to ineffective fat breakdown, leading to complications like hypoglycemia and muscle damage.
- Management of these disorders requires careful glucose administration to mitigate crises while monitoring potential cardiac risks and associated symptoms.
Deep dives
Understanding Fatty Acid Oxidation Disorders
Fatty acid oxidation disorders, characterized by the inability to effectively break down fats for energy, can lead to significant metabolic complications. The process involves enzymes and transporters like carnitine and CPT1/CPT2 that allow fatty acids to enter mitochondria for beta oxidation. When these systems fail, patients struggle to produce ATP from fats, resulting in increased reliance on carbohydrates and proteins, which can lead to hypoglycemia and muscle breakdown. Additionally, the disruption of fat metabolism can prevent the formation of ketones, which are crucial for brain energy, leading to further complications like rhabdomyolysis and cardiomyopathy.
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