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Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

Artikel i vetenskaplig tidskrift
Författare Juan Darío Ortigoza-Escobar
Marta Molero-Luis
Angela Arias
Alfonso Oyarzabal
Niklas Darin
Mercedes Serrano
Angels Garcia-Cazorla
Mireia Tondo
María Hernández
Judit Garcia-Villoria
Mercedes Casado
Laura Gort
Johannes A Mayr
Pilar Rodríguez-Pombo
Antonia Ribes
Rafael Artuch
Belén Pérez-Dueñas
Publicerad i Brain : a journal of neurology
Volym 139
Nummer/häfte Pt 1
Sidor 31-8
ISSN 1460-2156
Publiceringsår 2016
Publicerad vid Institutionen för kliniska vetenskaper, Avdelningen för pediatrik
Sidor 31-8
Språk en
Länkar dx.doi.org/10.1093/brain/awv342
Ämneskategorier Neurologi, Pediatrik

Sammanfattning

Thiamine transporter-2 deficiency is caused by mutations in the SLC19A3 gene. As opposed to other causes of Leigh syndrome, early administration of thiamine and biotin has a dramatic and immediate clinical effect. New biochemical markers are needed to aid in early diagnosis and timely therapeutic intervention. Thiamine derivatives were analysed by high performance liquid chromatography in 106 whole blood and 38 cerebrospinal fluid samples from paediatric controls, 16 cerebrospinal fluid samples from patients with Leigh syndrome, six of whom harboured mutations in the SLC19A3 gene, and 49 patients with other neurological disorders. Free-thiamine was remarkably reduced in the cerebrospinal fluid of five SLC19A3 patients before treatment. In contrast, free-thiamine was slightly decreased in 15.2% of patients with other neurological conditions, and above the reference range in one SLC19A3 patient on thiamine supplementation. We also observed a severe deficiency of free-thiamine and low levels of thiamine diphosphate in fibroblasts from SLC19A3 patients. Surprisingly, pyruvate dehydrogenase activity and mitochondrial substrate oxidation rates were within the control range. Thiamine derivatives normalized after the addition of thiamine to the culture medium. In conclusion, we found a profound deficiency of free-thiamine in the CSF and fibroblasts of patients with thiamine transporter-2 deficiency. Thiamine supplementation led to clinical improvement in patients early treated and restored thiamine values in fibroblasts and cerebrospinal fluid.

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