Title: It’s all about the vitamins [B]aby!

Tuesday, November 18 | 2:00pm-3:00pm ET

1.0 AMA PRA Category 1 Credits™ - Claim by December 18

Description:

This session explores the essential functions of vitamins—particularly B vitamins—as metabolic cofactors and their significance in maintaining health. Through a series of case-based examples, we will examine how vitamin deficiencies can mimic inherited metabolic disorders (IMDs), and how supratherapeutic dosing of select B vitamins can be employed as targeted therapies.

We will begin with an overview of the biochemical roles of vitamins, with an emphasis on their cofactor activity, followed by detailed case studies:

• Thiamine (B1): Beyond the well-known thiamine-responsive maple syrup urine disease (MSUD), we will explore lesser-known disorders such as thiamine pyrophosphokinase deficiency, highlighting clinical presentations and treatment implications.
• Riboflavin (B2): Case examples will demonstrate how riboflavin deficiency, especially in neonates on long-term parenteral nutrition, can result in metabolic profiles suggestive of complex IMDs, emphasizing the need for awareness of multivitamin shortages in clinical care.
• Pyridoxine (B6): We will review the clinical course and therapeutic response of pyridoxine-dependent epilepsy, discussing the importance of early recognition, treatment, and emerging considerations for newborn screening.
• Biotin (B7): Biotinidase deficiency serves as a successful example of early detection and intervention via newborn screening, with discussion on long-term management and areas for ongoing research.

Target Audience: Medical and clinical geneticists; maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.

Learning Objectives

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

1. Distinguish between the different B vitamins and their roles in cellular metabolism.
2. Identify dietary sources and recommended intake of various B vitamins according to established nutritional guidelines.
3. Recognize clinical manifestations associated with disorders of B vitamin metabolism.
4. Implement diagnostic approaches and treatment management strategies for disorders of B vitamin metabolism.
5. Apply proactive intervention by supplementing B vitamins before obtaining results from genetic testing.

Debra Regier, MD, PhD, FACMG Rare Disease Institute

Presenters:

	Kristina Cusmano-Ozog, MD, FACMG Stanford University School of Medicine
	Jennifer Harmon, MD, PhD Wake Forest University School of Medicine
	Curtis Coughlin, PhD, MS, MBE University of Colorado Anschutz Medical Campus
	Anna Scott, PhD, FACMG University of Washington

CME AMA PRA Category 1^TM, & CME Other)

Accreditation

The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Credit Designation
The American College of Medical Genetics and Genomics designates this live activity for a maximum of 1.0 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Claiming your Educational Credits

Complete the activity and carefully complete the evaluation form. The deadline to claim educational credits is within 30 days from the date of the activity. Educational credit requests after this date will not be accepted.

Learner Data Consent

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