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

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