Course : The Ticking Time Bomb - Adult-onset Presentations of Inborn Errors of Metabolism

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.





This session is geared towards genetic clinicians who evaluate adult patients but who are not necessarily specialized in managing inborn errors of metabolism. In the era of expanded newborn screening, there is an increasing appreciation of the clinical spectrum of pediatric manifestations of inborn errors when ascertainment is not based on clinical symptoms. With surveillance and appropriate interventions, it is anticipated that the clinical outcomes patients in the screened cohort can be improved. With the exception of a handful of disorders, the adult population has not had the benefit of population-based screening, setting the stage for late presentations of screenable as well as non-screenable disorders. It is important for clinicians to recognize the signs and symptoms of adult-onset forms of inborn errors of metabolism, especially those for which therapeutic options are available. This session will begin with an overview of neuropsychiatric presentations of inborn errors, as neurological presentations are a common thread in the subsequent presentations. Subsequent talks will focus on disorders which may be screenable (the recent RUSP addition X-linked adrenoleukodystrophy), non-screenable (Niemann-Pick type C, mitochondrial disorders, the porphyrias), or both (late-presenting urea cycle disorders). The final presentation will focus on mitochondrial disease as an example of a highly diverse set of adult-onset clinical phenotypes.


All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics


Course Information without Educational Credit Please Click Here


Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)


At the conclusion of this course, participants should be able to:

1. Recognize cardinal signs and symptoms of inborn errors of metabolism that may present in adulthood
2. Apply diagnostic algorithms for the evaluation of the conditions discussed in the session
3. Describe the treatment options for the conditions discussed in the session
4. Distinguish major groups of mitochondrial disorders that present in adulthood

Purchase without Educational Credits