Recognition of inborn errors of metabolism (IEM) requires high suspicion and appropriate biochemical or molecular testing. In adults, presentations can differ and/or be milder than in children, leading to even longer delays in diagnosis and treatment. Unfortunately, most medical school curricula lack opportunities to learn about IEM in adults. This session will illustrate the problem, raise awareness of underdiagnosed IEM in adults, and offer strategies to increase the number of specialists.

Presentation 1: Living with Acute Intermittent Porphyria – a journey and hope

Acute Intermittent Porphyria (AIP) is one of the most common IEM in adults. While the penetrance is low, those who suffer can experience debilitating symptoms. Correct diagnosis and timely treatment are critical. A patient will share her personal diagnostic journey. We want the audience to ponder why patients with AIP are viewed with suspicion and internalize their experience.  

Presentation 2: IEM Presenting in Adult Population with Focus on Neuropsychiatric Presentations

Many IEM can manifest milder neuropsychiatric symptoms in adulthood, requiring astute clinical suspicion and appropriate testing for timely diagnosis and treatment. The IEM that present with acute changes in mental status include urea cycle defects, remethylation disorders, maple syrup urine disease, and porphyria. If not recognized and treated, symptoms can evolve into a full-blown metabolic emergency. IEM that can present with chronic neuropsychiatric symptoms include lysosomal storage diseases, peroxisomal disorders, Wilson disease, cerebral creatine deficiencies, and cerebrotendinous xanthomatosis. Using clinical observations, this presentation will discuss IEM in the differential diagnoses of adult-onset neuropsychiatric illness and their acute management.

Presentation 3: Management of Common Concomitant Medical Complications in Adults with IEM

More patients with a childhood diagnosis of an IEM are surviving to adulthood when they can develop other common medical conditions such as hypertension, obesity, diabetes, and cancer, in addition to navigating the adult milestones of family planning and pregnancy. Furthermore, any IEM patient treated since childhood using any modality is charting a new natural history for that disease. This presentation will highlight the unique challenges and provide practical strategies for optimizing their care.

Presentation 4: Strategies to Increase Provider Workforce to Treat Adults with IEM

The shortage of medical genetics providers has been worsening as more patients with genetic disorders are identified. The shortage of providers caring for adults with IEM is even more severe. This presentation will discuss strategies and incentives to encourage medical school graduates to consider medical biochemical genetics as a career choice.

The presenters are from varying institutions across the nation, of both genders and varying backgrounds, including those from the LGBTQ community.