Thiamine deficiency: The importance of recognition and prompt management

Nutrition

Volumn 30, Issue 7-8, 2014, Pages 953-954

  Crook, Martin A ^a,b   Sriram, Krishnan ^c  

^a GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY OF GREENWICH   (United Kingdom)

^c Jr Hospital of Cook County   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COCARBOXYLASE; PYRUVIC ACID; THIAMINE; TRANSKETOLASE; CARRIER PROTEIN;

BERIBERI; BLOOD LEVEL; DISEASE ASSOCIATION; EARLY INTERVENTION; EDITORIAL; ENZYME ACTIVITY; GASTROINTESTINAL ABSORPTION; GENETIC SCREENING; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; METABOLIC ACIDOSIS; PRIORITY JOURNAL; REFEEDING SYNDROME; SUBSTITUTION THERAPY; THIAMINE DEFICIENCY; THIAMINE REPLACEMENT THERAPY; URINARY EXCRETION; GENETICS; MALE; MUTATION;

BERIBERI; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; THIAMINE; THIAMINE DEFICIENCY;

EID: 84903486227     PISSN: 08999007     EISSN: 18731244     Source Type: Journal    
DOI: 10.1016/j.nut.2014.03.003     Document Type: Editorial

References (25)

1. Bravata V., Minafra L., Callariz G., Gelfi C., Grimaldi L. Analysis of thiamine transporter genes in sporadic beriberi: a case report. Nutrition 2014, 30:485-488.
2. Ozawa H., Homma Y., Arisawa H., Fukuuchi F., Handa S. Severe metabolic acidosis and heart failure due to thiamine deficiency. Nutrition 2001, 17:351-352.
3. Valentino D., Sriram K., Shankar P. Update on micronutrients in bariatric surgery. Curr Opin Clin Nutr Metab Care 2011, 14:635-641.
4. Sriram K., Manzanares W., Joseph K. Thiamine supplementation in nutrition support. Nutr Clin Pract 2012, 27:41-50.
5. Costantini A., Pala M.I., Colangeli M., Savelli S. Thiamine and spinocerebellar ataxia type 2. BMJ Case Rep 2013, 2013. pii: Bcr2012007302. 10.1136/bcr-2012 to 007302.
6. Kittanamongkolchai W., Leeaphorn N., Srivali N., Cheungpasitporn W. Beriberi in a dialysis patient: do we need more thiamine?. Am J Emerg Med 2013, 31:753.
7. Chitra S., Lath K.V. Wernicke's encephalopathy with visual loss in a patient with hyperemesis gravidarum. J Assoc Physicians India 2012, 60:53-56.
8. Yilmaz Agladioglu S., Aycan Z., Bas V.N., Peltek Kendirci H.N., Onder A. Thiamine-responsive megaloblastic anemia syndrome: a novel mutation. Genet Couns 2012, 23:149-156.
9. Serrano M., Rebollo M., Depienne C., Rastetter A., Fernández-Álvarez E., Muchart J., et al. Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. Mov Disord 2012, 27:1295-1298.
10. Pérez-Dueñas B., Serrano M., Rebollo M., Muchart J., Gargallo E., Dupuits C., et al. Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. Pediatrics 2013, 131:e1670-e1675.
11. Kimura H., Takeda K., Muto Y., Mukai H., Furusho M., Nakashita S., et al. Development of Wernicke's encephalopathy during initiation of hemodialysis in an elderly non-alcoholic patient. Clin Nephrol 2012, 78:487-491.
12. Ward K.E., Happel K.I. An eating disorder leading to wet beriberi heart failure in a 30-year-old woman. Am J Emerg Med 2013, 31:460.e5-460.e6.
13. Bonucchi J., Hassan I., Policeni B., Kaboli P. Thyrotoxicosis associated with Wernicke's encephalopathy. J Gen Intern Med 2008, 23:106-109.
14. Larkin J.R., Zhang F., Godfrey L., Molostvov G., Zehnder D., Rabbani N., et al. Glucose-induced down regulation of thiamine transporters in the kidney proximal tubular epithelium produces thiamine insufficiency in diabetes. PLoS One 2012, 7:e53175.
15. Pichler H., Zeitlhofer P., Dworzak M.N., Diakos C., Haas O.A., Kager L. Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19 A2 mutations. Eur J Pediatr 2012, 171:1711-1715.
16. Scarano V., Milone M., Di Minno M.N., Panariello G., Bertogliatti S., Terracciano M., et al. Late micronutrient deficiency and neurological dysfunction after laparoscopic sleeve gastrectomy: a case report. Eur J Clin Nutr 2012, 66:645-647.
17. Oguz S.S., Ergenekon E., Tümer L., Koç E. A rare case of severe lactic acidosis in a preterm infant: lack of thiamine during total parenteral nutrition. J Pediatr Endocrinol Metab 2011, 24:843-845.
18. Scharfe C., Hauschild M., Klopstock T., Janssen A.J., Heidemann P.H., Meitinger T., et al. A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19 A2 in a patient with deficiency of respiratory chain complex I. J Med Genet 2000, 37:669-673.
19. Ganapathy V., Smith S.B., Prasad P.D. SLC19: The folate/thiamine transporter family. Pflugers Arch 2004, 447:641-646.
20. Diaz G.A., Banikazemi M., Oishi K., Desnick R.J., Gelb B.D. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Nat Genet 1999, 22:309-312.
21. Dutta B., Huang W., Molero M., Kekuda R., Leibach F.H., Devoe L.D., et al. Cloning of the human thiamine transporter, a member of the folate transporter family. J Biol Chem 1999, 274:31925-31929.
22. Fleming J.C., Tartaglini E., Steinkamp M.P., Schorderet D.F., Cohen N., Neufeld E.J. The gene mutated in thiamine responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. Nat Genet 1999, 22:305-308.
23. Labay V., Raz T., Baron D., Mandel H., Williams H., Barrett T., et al. Mutations in SLC19 A2 cause thiamine responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Nat Genet 1999, 22:300-304.
24. Lonsdale D., Shamberger R.J. Red cell transketolase as an indicator of nutritional deficiency. Am J Clin Nutr 1980, 33:205-211.
25. Gibson G.E., Ksiezak-Reding H., Sheu K.F. Correlation of enzymatic, metabolic, and behavioral deficits in thiamine deficiency and its reversal. Neurochem Res 2004, 9:803-814.