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Thiamine transporter-2 deficiency: outcome and treatment monitoring.

Authors :
Ortigoza-Escobar, Juan Darío
Serrano, Mercedes
Molero, Marta
Oyarzabal, Alfonso
Rebollo, Mónica
Muchart, Jordi
Artuch, Rafael
Rodríguez-Pombo, Pilar
Pérez-Dueñas, Belén
Source :
Orphanet Journal of Rare Diseases. 2014, Vol. 9 Issue 1, p1-21. 21p.
Publication Year :
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 nonneurological 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 followup, 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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
17501172
Volume :
9
Issue :
1
Database :
Academic Search Index
Journal :
Orphanet Journal of Rare Diseases
Publication Type :
Academic Journal
Accession number :
97096749
Full Text :
https://doi.org/10.1186/1750-1172-9-92