Thymidine Kinase 2 Deficiency: From Diagnostic Odyssey to Timely Diagnosis and Treatment

To participate in this activity, please:

Mary Kay Koenig, MD, a leader in the management of patients with mitochondrial diseases, delves into the complexities of managing patients with thymidine kinase 2 deficiency (TK2d). In this 1-hour activity, Dr. Koenig shares her insights in the clinical presentation of TK2d through real case studies and offers guidance on overcoming the ‘diagnostic odyssey’ experienced by many patients with mitochondrial disease. She also discusses the clinical criteria for referring patients to specialized mitochondrial treatment centers and explores vital aspects of supportive care. Furthermore, Dr. Koenig also reviews a novel therapy for TK2d currently in clinical trials.

Course Credit:

1 AMA PRA Category 1 CreditTM


Opens: 2023-10-24
Closes: 2024-10-24

Target Audience:

The education is developed to support neuromuscular specialists and neurologists, pediatricians, primary care providers, pulmonologists, and other specialists who may evaluate symptoms in patients with TK2d.

Supported by an independent educational grant from UCB Pharma.


In support of improving patient care, Annenberg Center for Health Sciences at Eisenhower (Annenberg Center) is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

The Annenberg Center for Health Sciences at Eisenhower designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Additional Content Planners

Lisa van Devender, PharmD (Medical Writer)
No significant relationships to disclose.

Sunali Wadehra, MD (Peer Reviewer)
No significant relationships to disclose.

Annenberg Center for Health Sciences

Staff at the Annenberg Center for Health Sciences at Eisenhower have no relevant financial relationships to disclose.

All of the financial relationships listed for these individuals have been mitigated.

    Presenting Faculty

  • Mary Kay Koenig, MD

    Professor and Associate Vice-Chair for Clinical Research
    Endowed Chair of Mitochondrial Medicine
    Director, Center for the Treatment of Pediatric Neurodegenerative Disease
    Co-Director, Tuberous Sclerosis Center
    Department of Pediatrics, Division of Child and Adolescent Neurology
    University of Texas Health Science Center at Houston
    UTHealth McGovern Medical School
    Houston, Texas

Learning Objectives

  • Recognize the most common presenting signs and symptoms of early-onset TK2d
  • Recognize the most common presenting signs and symptoms of late-onset TK2d
  • Apply recommended diagnostic techniques to confirm or exclude TK2d in patients with high clinical suspicion
  • Recall the mechanism of action for the TK2d investigational treatment

Faculty Disclosures

Mary Kay Koenig, MD

Consultant: Marinus Pharmaceuticals, Reneo Pharmaceuticals

Data Monitoring Safety Board: UCB

Speakers Bureau: Jazz Pharmaceuticals