Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency

Pediatrics

Volumn 131, Issue 5, 2013, Pages

  Pérez Dueñas, Belén ^a,b   Serrano, Mercedes ^b   Rebollo, Mónica ^a   Muchart, Jordi ^a   Gargallo, Eva ^a   Dupuits, Celine ^c   Artuch, Rafael ^a,b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Biotin; Leigh syndrome lactic acidosis; Mitochondrial encephalopathy; Perinatal brain injury; SLC19A3 gene; Thiamine; Thiamine transporter 2

Indexed keywords

2 OXOGLUTARIC ACID; BIOTIN; CARNITINE; CARRIER PROTEIN; ISOLEUCINE; LACTIC ACID; LEUCINE; THIAMINE; THIAMINE TRANSPORTER 2; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CEREBROSPINAL FLUID; FOLLOW UP; GENE; GENE MUTATION; HUMAN; INFANT; IRRITABILITY; LACTATE BLOOD LEVEL; LACTIC ACIDOSIS; MALE; METABOLIC ACIDOSIS; MITOCHONDRIAL ENCEPHALOPATHY; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OPISTHOTONUS; OUTCOME ASSESSMENT; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SLC19A3 GENE; THIAMINE TRANSPORTER 2 DEFICIENCY;

EID: 84877075545     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2012-2988     Document Type: Article

References (19)

1. Zeng WQ, Al-Yamani E, Acierno JS Jr, et al. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet. 2005;77(1):16-26 (Pubitemid 40848033)
2. Ozand PT, Gascon GG, Al Essa M, et al. Biotin-responsive basal ganglia disease: a novel entity. Brain. 1998;121(pt 7):1267-1279 (Pubitemid 28327404)
3. Debs R, Depienne C, Rastetter A, et al. Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Arch Neurol. 2010;67(1):126-130
4. Serrano M, Rebollo M, Depienne C, et al. Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. Mov Disord. 2012;27(10):1295-1298
5. Kono S, Miyajima H, Yoshida K, Togawa A, Shirakawa K, Suzuki H. Mutations in a thiamine-transporter gene and Wernicke'slike encephalopathy. N Engl J Med. 2009;360(17):1792-1794
6. Yamada K, Miura K, Hara K, et al. A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. BMC Med Genet. 2010;11:171
7. Labay V, Raz T, Baron D, et al. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Nat Genet. 1999;22(3):300-304 (Pubitemid 29297260)
8. Blair PV, Kobayashi R, Edwards HM III, Shay NF, Baker DH, Harris RA. Dietary thiamin level influences levels of its diphosphate form and thiamin-dependent enzymic activities of rat liver. J Nutr. 1999;129(3):641-648 (Pubitemid 29118045)
9. Hohmann S, Meacock PA. Thiamin metabolism and thiamin diphosphate-dependent enzymes in the yeast Saccharomyces cerevisiae: genetic regulation. Biochim Biophys Acta. 1998;1385(2):201-219 (Pubitemid 28310789)
10. Mayr JA, Freisinger P, Schlachter K, et al. Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. Am J Hum Genet. 2011;89(6):806-812
11. Siu VM, Ratko S, Prasad AN, Prasad C, Rupar CA. Amish microcephaly: long-term survival and biochemical characterization. Am J Med Genet A. 2010;152A(7):1747-1751
12. Desjardins P, Butterworth RF. Role of mitochondrial dysfunction and oxidative stress in the pathogenesis of selective neuronal loss in Wernicke's encephalopathy. Mol Neurobiol. 2005;31(1-3):17-25 (Pubitemid 41271191)
13. Gibson K, Halliday JL, Kirby DM, Yaplito-Lee J, Thorburn DR, Boneh A. Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses. Pediatrics. 2008;122(5):1003-1008
14. Oguz SS, Ergenekon E, Tümer L, et al. A rare case of severe lactic acidosis in a preterm infant: lack of thiamine during total parenteral nutrition. J Pediatr Endocrinol Metab. 2011;24(9-10):843-845
15. Fattal-Valevski A, Kesler A, Sela BA, et al. Outbreak of life-threatening thiamine deficiency in infants in Israel caused by a defective soy-based formula. Pediatrics. 2005;115(2):e233. Available at: www.pediatrics.org/cgi/ content/full/115/2/e233
16. Kannan S, Chugani HT. Applications of positron emission tomography in the newborn nursery. Semin Perinatol. 2010;34(1):39-45
17. Jhala SS, Hazell AS. Modeling neurodegenerative disease pathophysiology in thiamine deficiency: consequences of impaired oxidative metabolism. Neurochem Int. 2011;58(3):248-260
18. Zuccoli G, Siddiqui N, Bailey A, Bartoletti SC. Neuroimaging findings in pediatric Wernicke encephalopathy: a review. Neuroradiology. 2010;52(6):523-529
19. Subramanian VS, Marchant JS, Said HM. Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. Am J Physiol Cell Physiol. 2006;291(5):C851-C859 (Pubitemid 44771804)