#338 Social Determinants of Health and Mental Health in Urea Cycle Disorders

Urea cycle disorders (UCDs) are rare inborn errors of metabolism (IEMs) caused by enzyme or transporter deficiencies in the urea cycle, which is responsible for protein metabolism. These conditions can present at any age with acute, chronic, and intermittent symptoms of hyperammonemia. The first UCD was described over 50 years ago and while many “unknowns” about UCDs still remain, the way we think about and treat these conditions today is evolving. In this second episode of a series focused on the evolution of UCD management, we discuss social determinants of health (SDOH) and how they impact patients with UCDs, examine the psychosocial burden of living with a chronic condition, and highlight how the multidisciplinary metabolic team can help patients and families overcome barriers to UCD management. Kendra J. Bjoraker, PhD, LP, is a pediatric neuropsychologist who specializes in rare genetic conditions. She served as faculty at the University of Minnesota and Children’s Hospital Colorado/University of Colorado and operates a dedicated practice, Bjoraker Neuropsychology Consultants, PLLC. Dr Bjoraker’s mission is to help identify and address psychosocial issues in patients with rare disorders in order to alleviate stressors associated with living with chronic conditions. Erika R. Vucko, APRN-NP, FNP, is a metabolic nurse practitioner at Ann & Robert H. Lurie Children’s Hospital of Chicago and faculty at the Northwestern University Feinberg School of Medicine. She is also the PKU Clinic Director at Lurie Children’s, co-created APRN metabolic follow-up clinic for patients with IEMs, and acts as a principal investigator for multiple clinical trials. She has provided clinical care for many patients with UCDs, among other genetic conditions. Her clinical interests include metabolic research, newborn screening, and lysosomal storage disorders. On This Episode, We Discuss: How socioeconomic and psychosocial factors impact a patient’s ability to engage in their UCD management Best practices and opportunities for multidisciplinary metabolic clinicians to support the care of patients with UCDs and their families Available resources to help patients navigate SDOH and mental health barriers to UCD management Related Episodes: Episode #323: Supporting Ongoing Urea Cycle Disorder (UCD) Care A discussion about how clinicians can better engage patients in their own care to help them sustain their daily UCD management needs   Episode #282: The Evolution of Caring for Females With OTC Deficiency A conversation about ornithine transcarbamylase (OTC) deficiency, the most common UCD, and how care for symptomatic heterozygous females has evolved over time   Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.    While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”   Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!    DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. This episode is sponsored by AMGEN.   See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].   USA-RABU-80050 04/25

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