Thymidine kinase 2 deficiency identification and management: TK2D-MDDS, do you copy?

Thymidine kinase 2 deficiency identification and management: TK2D-MDDS, do you copy?

In this online, self-learning activity: Thymidine kinase 2 deficiency (TK2D) is an ultrarare mitochondrial disease caused by recessive mutations in the TK2 gene and manifesting as a form of mitochondrial DNA depletion/deletion syndrome (MDDS) and mitochondrial myopathy. Under normal conditions, the TK2 gene encodes for the thymidine kinase enzyme present in the mitochondria, which is responsible for the phosphorylating of pyrimidine nucleosides, deoxythymidine, and deoxycytidine. These are the first steps in mitochondrial DNA synthesis, and researchers speculate that TK2 mutations affect muscle tissue because its higher energy demands make it most susceptible to mitochondrial impairment. Mutational analyses of patients with MDDS have found that approximately 15% have TK2 mutations, which may be extrapolated to about 600 to 2,700 individuals in the US.

  • Provider:ScientiaCME
  • Activity Link: https://www.scientiacme.org/cme
  • Start Date: 2025-02-15 06:00:00
  • End Date: 2025-02-15 06:00:00
  • Credit Details: AMA PRA Category 1 Credit™️: 1.0 hours
  • MOC Credit Details: ABIM - 1.0 Point; Credit Type(s): Medical Knowledge (ABIM)
    ABP - 1.0 Point; Credit Type(s): Lifelong Learning and Self-Assessment (ABP)
  • Commercial Support: Source: UCB - Amount: 27248.0 - Is Kind Support: False
  • Activity Type: Enduring Material
  • CME Finder Type: Online Learning
  • Fee to Participate: No, it's free
  • Measured Outcome: Learner Competence, Learner Knowledge, Learner Performance
  • Provider Ship: Directly Provided
  • Registration: Open to all
  • Specialty: Gastroenterology, General Pediatrics, Internal Medicine, Pediatric Neurology, Pulmonary Disease
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