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DOI: 10.1055/s-0043-1772606
SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease
Mutação do gene SCL19A3 com apresentação do fenótipo Leigh: uma doença potencialmente tratável![](https://www.thieme-connect.de/media/10.1055-s-00054595/202311/lookinside/thumbnails/10-1055-s-0043-1772606_230120-1.jpg)
A two-month-old boy presented with breastfeeding difficulty, hypoactivity, hyporeactivity, and seizures. Neuroimaging showed multiple areas of cytotoxic and vasogenic edema in the midbrain, cerebellum, basal ganglia, and brain hemispheres, with lactate peak ([Figure 1]). Exome sequencing revealed a heterozygous mutation c.597dup (p.His200Serfs*25) in the SCL19A3 gene.
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The SCL19A3 gene encodes thiamine transporter-2. Mutations can result in thiamine metabolism dysfunction syndrome-2, and they can present as early as infantile Leigh-like syndrome,[1] a potentially treatable disease. This patient was submitted to thiamine and biotin replacement, but his evolution confirmed a poor prognosis ([Figure 2]).[2] The poor outcome warrants genetic counseling for the families.
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Authors' Contributions
LFF: conceptualization, formal analysis, investigation, validation, visualization, writing of the original draft, and writing – review and editing; ECM: formal analysis, investigation, visualization, and writing – review & editing; TRN: formal analysis, funding acquisition, supervision, validation, and visualization; APA: investigation, supervision, validation, visualization, and writing of the original draft; MLD: validation, visualization, writing of the original draft, and writing – review and editing.
Publication History
Received: 26 May 2023
Accepted: 24 June 2023
Article published online:
13 October 2023
© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)
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References
- 1 Haack TB, Klee D, Strom TM. et al. Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease. Brain 2014; 137 (Pt 9): e295
- 2 Alfadhel M. Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review. J Cent Nerv Syst Dis 2017; 9: 1179573517737521