Thiamine transporter-2 deficiency: outcome and treatment monitoring
Tóm tắt
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. 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. 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. 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.
Tài liệu tham khảo
Marco E, Anderson J, Neilson D, Strober J: Acute necrotizing encephalopathy in 3 brothers. Pediatrics. 2010, 125: e693-e698.
Lal D, Becker K, Motameny S, Altmüller J, Thiele H, Nürnberg P, Ahting U, Rolinski B, Neubauer BA, Hahn A: Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis. Neurogenetics. 2013, 14: 85-87.
Tzoulis C, Vedeler C, Haugen M, Storstein A, Tran GT, Gjerde IO, Biermann M, Schwarzlmüller T, Bindoff LA: Progressive striatal necrosis associated with anti-NMDA receptor antibodies. BMC Neurol. 2013, 13: 55.
La Piana R, Uggetti C, Olivieri I, Tonduti D, Balottin U, Fazzi E, Orcesi S: Bilateral striatal necrosis in two subjects with aicardi-goutières syndrome due to mutations in ADAR1 (AGS6). Am J Med Genet A. 2014, 164: 815-892.
Pérez-Dueñas B, De La Osa A, Capdevila A, Navarro-Sastre A, Leist A, Ribes A, García-Cazorla A, Serrano M, Pineda M, Campistol J: Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging. Eur J Paediatr Neurol. 2009, 13: 534-540.
Ozand PT, Gascon GG, Al Essa M, Joshi S, Al Jishi E, Bakheet S, Al Watban J, Al-Kawi MZ, Dabbagh O: Biotin-responsive basal ganglia disease: a novel entity. Brain. 1998, 121: 1267-1279.
Zeng WQ, Al-Yamani E, Acierno JS, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF: Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet. 2005, 77: 16-26.
Kono S, Miyajima H, Yoshida K, Togawa A, Shirakawa K, Suzuki H: Mutations in a thiamine-transporter gene and Wernicke’s-like encephalopathy. N Engl J Med. 2009, 360: 1792-1794.
Yamada K, Miura K, Hara K, Suzuki M, Nakanishi K, Kumagai T, Ishihara N, Yamada Y, Kuwano R, Tsuji S, Wakamatsu N: A wide spectrum of clinical and brain MRI findings in SLC19A3 mutations. BMC MedGenet. 2010, 11: 171.
Debs R, Depienne C, Rastetter A, Bellanger A, Degos B, Galanaud D, Keren B, Lyon-Caen O, Brice A, Sedel F: Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Arch Neurol. 2010, 67: 126-130.
Serrano M, Rebollo M, Depienne C, Rastetter A, Fernández-Álvarez E, Muchart J, Martorell L, Artuch R, Obeso JA, Pérez-Dueñas B: Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. MovDisord. 2012, 27: 1295-1298.
Kevelam S, Bugiani M, Salomons G, Feigenbaum A, Blaser S, Prasad C, Häberle J, Baric I, Bakker IM, Postma NL, Kanhai WA, Wolf NI, Abbink TE, Waisfisz Q, Heutink P, van der Knaap MS: Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain. 2013, 136: 1534-1543.
Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H: Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early childhood fatal Leigh syndrome. Brain. 2013, 136: 882-890.
Tabarki B, Al-Shafi S, Al-Shahwan S, Azmat Z, Al-Hashem A, Al-Adwani N, Biary N, Al-Zawahmah M, Khan S, Zuccoli G: Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. Neurology. 2013, 80: 261-267.
Alfadhel M, Almuntashri M, Jadah R, Bashiri FA, Al Rifai MT, Al Shalaan H, Al Balwi M, Al Rumayan A, Eyaid W, Al-Twaijri W: Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. Orphanet J Rare Dis. 2013, 8: 83.
Fassone E, Wedatilake Y, Devile CJ, Chong WK, Carr LJ, Rahman S: Treatable Leigh-like encephalopathy presenting in adolescence. BMJ Case Rep. 2013, 2013: 200838.
Distelmaier F, Huppke P, Pieperhoff P, Amunts K, Schaper J, Morava E, Mayatepek E, Kohlhase J, Karenfort M: Biotin-responsive basal ganglia disease: a treatable differential diagnosis of leigh syndrome. JIMD Rep. Epub ahead of print; 2013.
Tabarki B, Al-Hashem A, Alfadhel M: Biotin-Thiamine-Responsive Basal Ganglia Disease. GeneReviews™ [Internet]. Edited by: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K. Seattle (WA): University of Washington, Seattle; 2013: 1993-2013.
Pérez-Dueñas B, Serrano M, Rebollo M, Muchart J, Gargallo E, Dupuits C, Artuch R: Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. Pediatrics. 2013, 131: e1670-e1675.
Schänzer A, Döring B, Ondrouschek M, Goos S, Garvalov BK, Geyer J, Acker T, Neubauer B, Hahn A: Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease. Brain Pathol. 2014, 24: 270-279.
Moyano D, Vilaseca MA, Artuch R, Lambruschini N: Plasma amino acids in anorexia nervosa. Eur J Clin Nutr. 1998, 52: 684-689.
Blau N, Duran M, Gibson K: Laboratory guide to the methods in biochemical genetics. Edited by: Blau N, Duran M, Gibson K. Berlin, Heidelberg, New York: Springer; 2008: 137-169.
Mayr JA, Freisinger P, Schlachter K, Rolinski B, Zimmermann FA, Scheffner T, Haack TB, Koch J, Ahting U, Prokisch H, Sperl W: Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. Am J Hum Genet. 2011, 89: 806-812.
García-Cazorla A, Oyarzabal A, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, Lopez-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch R, Palacín M, Rodríguez-Pombo P, Alcaide P, Navarrete R, Sanz P, Font-Llitjós M, Vilaseca MA, Ormaizabal A, Pristoupilova A, Agulló SB: Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. Hum Mutat. 2014, 35 (4): 470-477.
Chan SY, Loscalzo J: The emerging paradigm of network medicine in the study of human disease. Circ Res. 2012, 111: 359-374.
Lehner B: Modelling genotype-phenotype relationships and human disease with genetic interaction networks. J Exp Biol. 2007, 210: 1559-1566.
Körner RW, Vierzig A, Roth B, Müller C: Determination of thiamin diphosphate in whole blood samples by high-performance liquid chromatography–a method suitable for pediatric diagnostics. J Chromatogr B Analyt Technol Biomed Life Sci. 2009, 877: 1882-1886.
Thyagarajan D, Shanske S, Vazquez-Memije M, De Vivo D, DiMauro S: A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann Neuro. 1995, 38: 468-472.
Giribaldi G, Doria-Lamba L, Biancheri R, Severino M, Rossi A, Santorelli FM, Schiaffino C, Caruso U, Piemonte F, Bruno C: Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility. Dev Med Child Neurol. 2012, 54: 472-476.
Lebre AS, Rio M, Faivre d’Arcier L, Vernerey D, Landrieu P, Slama A, Jardel C, Laforêt P, Rodriguez D, Dorison N, Galanaud D, Chabrol B, Paquis-Flucklinger V, Grévent D, Edvardson S, Steffann J, Funalot B, Villeneuve N, Valayannopoulos V, de Lonlay P, Desguerre I, Brunelle F, Bonnefont JP, Rötig A, Munnich A, Boddaert N: A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency. J Med Genet. 2011, 48: 16-23.
Parikh S1, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Mitochondrial Medicine Society Clinical Directors Working Group: Practice patterns of mitochondrial disease physicians in North America: part 2: treatment, care and management. Mitochondrion. 2013, 13: 681-687.