Table 6.

Recommended Surveillance for Individuals with TK2-Related mtDNA Maintenance Defect

System/ConcernEvaluationFrequency
Growth/Feeding Assessment of nutritional statusRoutine
Assessment of weight gain & growth parametersAt each visit 1
Ears Audiology evaluation 2Annually or if concerns arise
Pulmonary Pulmonary function tests 3Depending on clinical severity
Assessment of blood gases 4
Neurologic Neurodevelopmental assessments 5At each visit
1.

Particularly in infancy, childhood, and adolescence; for adults, monitor for persistent weight loss, which may indicate inadequate nutrition.

2.

In those with infantile-onset disease

3.

For those who are able to cooperate

4.

To evaluate for respiratory insufficiency (alveolar hypoventilation and chronic hypercapnia)

5.

Consider periodic speech/language evaluation by a developmental pediatrician or pediatric neurologist.

From: TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.