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achieve a greater disease awareness in the healthcare community and to provide timely access to treatments
before the development of irreversible organ damage. With an improved understanding of this disorder,
the future is likely to see the identification of alternative therapeutic targets or the application of combined
treatment approaches to prevent the specific pathologies of this complex, multisystemic disorder. Untoward
effects of thymidine phosphorylase overexpression and deoxyribonucleotide pool modifications will require
careful surveillance.

DECLARATIONS
Authors’ contributions
The author contributed solely to the article.

Availability of data and materials
Not applicable.

Financial support and sponsorship
This author’s work is supported by the Medical Research Council (grant number: K025406) https://mrc.
ukri.org/ and the Lily Foundation https://www.thelilyfoundation.org.uk/

Conflicts of interest
The author’s Institution, St George’s, University of London holds a licensing agreement with Orphan
Technologies for the clinical development of EE-TP.

Ethical approval and consent to participate
Not applicable.

Consent for publication
Not applicable.

Copyright
© The Author(s) 2020.

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