Metabolic Disorders

What this episode covers

<br /> This episode will help you better prepare for and manage children with inborn errors of metabolism in the Emergency Department. Consider it a supplement to what you remember from Biochemistry and the instructions on the family&#8217;s laminated care plan sheet. My special guest podcaster, Emily Groopman, is an actual Pediatric Geneticist in training and we hope that you will find this episode useful.<br /> <br /> <br /> <br /> <a href="http://www.pwmblog.com" target="_blank" rel="noreferrer noopener">PEMBlog</a><br /> <br /> <br /> <br /> <a href="http://twitter.com/PEMTweets">@PEMTweets on&#8230; sigh &#8220;X&#8221; (Twitter)</a><br /> <br /> <br /> <br /> <a href="https://www.instagram.com/bradsobolewski/" target="_blank" rel="noreferrer noopener">My Instagram</a><br /> <br /> <br /> <br /> <a href="https://med-mastodon.com/@bradsobo" target="_blank" rel="noreferrer noopener">My Mastodon account @bradsobo</a><br /> <br /> <br /> <br /> Emily Groopman, MD, PhD<br /> <br /> <br /> <br /> Emily Groopman, MD, PhD is a first-year resident in the Combined Pediatrics-Medical Genetics Residency Program at Children&#8217;s National Hospital/NIH. She did her MD/PhD at Columbia University, where she investigated the diagnostic utility of exome sequencing for kidney disease. She is a member of the Clinical Genome Resource Inborn Errors of Metabolism (IEM) Clinical Domain Working Group, where as a biocurator she assesses the pathogenicity of variants in IEM-associated genes to facilitate expedited genetic diagnosis for IEMs. She aims to become a physician-scientist in pediatrics and medical genetics, engaging in bench-to-bedside research that utilizes multi-omics-based approaches to provide a molecular diagnosis and support personalized care for individuals with suspected rare genetic diseases and their families. You can contact her via email at [email protected].<br /> <br /> <br /> <br /> References<br /> <br /> <br /> <br /> Jeanmonod R, Asuka E, Jeanmonod D. Inborn Errors of Metabolism. [Updated 2023 Jul 17]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK459183/#<br /> <br /> <br /> <br /> Rice GM, Steiner RD. Inborn Errors of Metabolism (Metabolic Disorders). Pediatr Rev. 2016 Jan;37(1):3-15; quiz 16-7, 47. doi: 10.1542/pir.2014-0122. PMID: 26729777.<br /> <br /> <br /> <br /> Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics. 1998 Dec;102(6):E69. doi: 10.1542/peds.102.6.e69. PMID: 9832597.<br /> <br /> <br /> <br /> Transcript<br /> <br /> <br /> <br /> Note: This transcript was partially completed with the use of the Descript AI<br /> <br /> <br /> <br /> Welcome to PEM Currents, the Pediatric Emergency Medicine Podcast. As always, I&#8217;m your host, Brad Sobolewski, and this episode focuses on the management of children with metabolic disorders who present to the emergency department. I know that this is a subject that makes us all a little bit nervous, and you&#8217;re just hoping that the parents have a good laminated sheet to tell you everything that you need to do.<br /> <br /> <br /> <br /> Unfortunately, that&#8217;s not always the case. And, let&#8217;s face it, there are some great principles that you can apply across metabolic diseases to make sure that you are safely taking care of these children. And you&#8217;re thinking, hey! Brad&#8217;s not a pe