English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/125836
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE
Exportar a otros formatos:


Thiamine transporter-2 deficiency: outcome and treatment monitoring

AuthorsOrtigoza-Escobar, Juan Darío; Serrano, Mercedes; Molero, Marta; Oyarzábal, Alfonso CSIC ORCID; Rebollo, Mónica; Muchart, J.; Artuch, Rafael; Rodríguez-Pombo, Pilar CSIC; Pérez-Dueñas, Belén
KeywordsThiamine transporter 2 deficiency
Biotin responsive basal ganglia disease
Leigh syndrome
Lactic acidosis
Striatal necrosis
Issue Date23-Jun-2014
PublisherBioMed Central
CitationOrphanet Journal of Rare Diseases 9(1): 92 (2014)
Abstract[Background] The clinical characteristics distinguishing treatable thiamine transporter-2 deficiency (ThTR2) due to SLC19A3 genetic defects from the other devastating causes of Leigh syndrome are sparse.
[Methods] We report the clinical follow-up after thiamine and biotin supplementation in four children with ThTR2 deficiency presenting with Leigh and biotin-thiamine-responsive basal ganglia disease phenotypes. We established whole-blood thiamine reference values in 106 non-neurological affected children and monitored thiamine levels in SLC19A3 patients after the initiation of treatment. We compared our results with those of 69 patients with ThTR2 deficiency after a review of the literature.
[Results] At diagnosis, the patients were aged 1 month to 17 years, and all of them showed signs of acute encephalopathy, generalized dystonia, and brain lesions affecting the dorsal striatum and medial thalami. One patient died of septicemia, while the remaining patients evidenced clinical and radiological improvements shortly after the initiation of thiamine. Upon follow-up, the patients received a combination of thiamine (10–40 mg/kg/day) and biotin (1–2 mg/kg/day) and remained stable with residual dystonia and speech difficulties. After establishing reference values for the different age groups, whole-blood thiamine quantification was a useful method for treatment monitoring.
[Conclusions] ThTR2 deficiency is a reversible cause of acute dystonia and Leigh encephalopathy in the pediatric years. Brain lesions affecting the dorsal striatum and medial thalami may be useful in the differential diagnosis of other causes of Leigh syndrome. Further studies are needed to validate the therapeutic doses of thiamine and how to monitor them in these patients.
Publisher version (URL)http://dx.doi.org/10.1186/1750-1172-9-92
Appears in Collections:(CBM) Artículos
Files in This Item:
File Description SizeFormat 
13023_2014_Article_779.pdf1,32 MBAdobe PDFThumbnail
Show full item record
Review this work

Related articles:

WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.