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Navigating Crossroads of Complex Adult-Onset Neurological Diseases and Neurometabolic Disorders

16 Mar 2024
Venue: MTCC
Meeting Room: 701
Biochemical/Metabolic and Therapeutics
  • Accredited:
    • Accredited
  • Primary Categories:
    • Metabolic Genetics
  • Secondary Categories:
    • Metabolic Genetics
  • Level of Learner:
    • Intermediate
Individually, inborn errors of metabolism (also known as IEM) are uncommon, but collectively, they are more prevalent than is generally believed. The term "neurometabolic diseases" refers to a collection of diverse genetic conditions that all have one thing in common: the disruption of certain aspects of the metabolism of individual cells, which ultimately results in neurological phenotype. Adult-onset forms have phenotypes that are sometimes significantly different from pediatric ones. Because these phenotypes may mimic other more common neurological disorders in adults, a specific approach is necessary to properly diagnose and treat adult-onset forms. A significant number of neurometabolic diseases are amenable to successful treatment with a combination of traditional therapeutics and more innovative therapeutics that have only recently been approved. The early recognition and diagnosis of a treatable neurometabolic disease can have a significant impact on patients. This can result in the stabilization of the disease, regression of some signs and symptoms, the stopping of any unnecessary diagnostic investigations, and the ability to screen and treat presymptomatic carriers in the relatives.

Clinical cases of neurometabolic disorders that have been seen in adult neurology clinics or inpatient wards will be discussed by a panel of experts consisting of four different specialists. When evaluating adult patients who have complex neurological disorders, we hope that our colleagues will be able to use the specific cases that we have presented here to educate adult neurologists and internists to consider these neurometabolic disorders as a differential diagnosis option. A differential diagnosis, metabolic work-up, and management strategy will be used for each individual case. The cases that are presented below have been chosen to illustrate both common and uncommon manifestations of neurometabolic disorders. The purpose of this session is to provide a framework for both general geneticists and neurologists regarding adult-onset neurometabolic conditions that may first present to the adult neurology subspecialty in both an ambulatory and inpatient setting, as well as how to identify and proceed in these scenarios in a pragmatic manner.
Speakers will discuss Neurometabolic disorders that can present with the following manifestations:
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Learning Objectives

  1. Generate metabolic differential dx for complex neurologic presentations in adult populations
  2. Describe the Inborn error of metabolism associated with dementia, myopathy, ataxia, stroke, and epilepsy
  3. Recognize variations in neurological presentations of metabolic disorders in adults
  4. Describe testing strategies and consultation with geneticists for adult patients with neurological symptoms
  5. Apply a diagnostic strategy to presentations of metabolic disorders in adults
  6. Provide metabolic work-up for complex neurologic presentations in adult populations

Agenda

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