Treatable IEM - Pyrimidine Pathway Defects
SIMD EDUCATION COMMITTEE WEBINAR SERIES
The Treatable IEM session will be a trainee presentation of TK2 deficiency and CAD-CDG cases followed by commentary by experts.
Commercial Supporter
This educational activity is supported by an educational grant from Ultragenyx.
Learning Objectives
- Examine pyrimidine synthesis and degradation pathway and review potential treatments.
- Recognize presentations of TK2 deficiency and describe the management.
- Recognize presentations of CAD-CDG and describe the management.
- Illustrate the mechanism of CDG in CAD deficiency.
Medical Biochemical Genetics is hosted virtually via Zoom. Zoom details will be provided after registering for the course.
Moderators
Mari Mori, MD
Ohio State University
Hong Li, MD
Emory University
Guest Faculty
Eva Morava, MD, PhD
Mount Sinai
Saskia Wortmann, MD, PhD
Paracelsus Medical University
Oleg Shchelochkov, MD
National Human Genome Research Institute
Mercedes Rodriguez Celin, MD
Medical College of Wisconsin
Angela Lee, MD
Children's Mercy
Disclosures
Planners, faculty, and others in control of content (either individually or as a group) have no relevant financial relationships with ineligible companies.
All of the relevant financial relationships listed have been mitigated.
Medical
Children’s Hospital Colorado is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.
Children’s Hospital Colorado designates this Live activity for a maximum of 1.50 AMA PRA Category 1 Credit(s)™. Physicians should only claim credit commensurate with the extent of their participation in the activity.
Others
A general certificate of attendance will be available after the completion of the online evaluation. Claim only credit commensurate of your conference attendance.
Available Credit
- 1.00 AMA PRA Category 1 Credit™
- 1.00 Attendance