Cited by 336Alcoholism and Thiamine DeficiencyChild Nutrition and Water AccessNutrition, Health, and Society Studies

Thiamine deficiency disorders: Diagnosis, prevalence, and a roadmap for global control programs

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Whitfield, Kyly C., Bourassa, Megan W., Adamolekun, Bola, Bergeron, Gilles, Bettendorff, Lucien, Brown, Kenneth H., Cox, Lorna, Fattal‐Valevski, Aviva +12 more·2018·Annals of the New York Academy of Sciences

Abstract

Thiamine is an essential micronutrient that plays a key role in energy metabolism. Many populations worldwide may be at risk of clinical or subclinical thiamine deficiencies, due to famine, reliance on staple crops with low thiamine content, or food preparation practices, such as milling grains and washing milled rice. Clinical manifestations of thiamine deficiency are variable; this, along with the lack of a readily accessible and widely agreed upon biomarker of thiamine status, complicates efforts to diagnose thiamine deficiency and assess its global prevalence. Strategies to identify regions at risk of thiamine deficiency through proxy measures, such as analysis of food balance sheet data and month-specific infant mortality rates, may be valuable for understanding the scope of thiamine deficiency. Urgent public health responses are warranted in high-risk regions, considering the contribution of thiamine deficiency to infant mortality and research suggesting that even subclinical thiamine deficiency in childhood may have lifelong neurodevelopmental consequences. Food fortification and maternal and/or infant thiamine supplementation have proven effective in raising thiamine status and reducing the incidence of infantile beriberi in regions where thiamine deficiency is prevalent, but trial data are limited. Efforts to determine culturally and environmentally appropriate food vehicles for thiamine fortification are ongoing.

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  • Beriberi, the disease resulting from severe thiamine deficiency, affects several organs, including the muscular and peripheral nervous systems, and causes fatigue, ataxia, muscle pain, and dyspnoea on exertion.

    “Beriberi, the disease resulting from severe thiamine (vitamin B1) deficiency affects several organs, including the muscular and peripheral nervous systems [99]. General symptoms include fatigue, ataxia due to muscle weakness in the legs and arms, muscle pain and tenderness, and dyspnoea on exertion.”
  • Accidental thiamine deficiency in children fed thiamine-lacking infant formula results in persistent cognitive and motor deficits.

    “An accidental thiamine deficiency in children fed an infant formula erroneously lacking thiamine, resulted in persistent cognitive and motor deficits. Even the children who initially appeared unaffected subsequently displayed a range of cognitive dysfunction, including delayed language acquisition, language impairment and dyslexia, poor coordination skills, and learning disabilities; quoted in [99”
  • Cerebral beriberi (thiamine deficiency) may lead to encephalopathies and cognitive impairment, including memory disorder and amnesia.

    “Cerebral beriberi (thiamine (vitamin B1) deficiency) may lead to encephalopathies, characterized by abnormal eye movements, and cognitive impairment, involving a confused, apathetic state and a profound memory disorder, with severe amnesia and loss of recent and working memory.”

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  1. [27]Turck, D., J.‐L. Bresson, A. Flynn, et al 2016 EFSA scientific opinion on dietary reference values for thiamin. EFSA J. 14: e04653. PMC13088889 42006014
  2. [65]Khounnorath, S., K. Chamberlain, A.M. Taylor, et al 2011 Clinically unapparent infantile thiamin deficiency in Vientiane, Laos. PLoS Negl. Trop. Dis. 5: 19– 21. PMC3050987 21423705
  3. [136]Institute of Medicine. 1998 Dietary Reference Intakes for Thiamin, Riboflavin, Niacin, Vitamin B6, Folate, Vitamin B12, Pantothenic acid, Biotin, and Choline. Washington, DC: National Academies Press. 23193625
  4. [140]Otten J., Hellwig J. & Meyers L., Eds. 2006 Dietary Reference Intakes: the Essential Guide to Nutrient Requirements. Washington, DC National Academies Press.
  5. [149]World Health Organization. 2014 Guideline: fortification of food‐grade salt with iodine for the prevention and control of iodine deficiency disorders. World Health Organization, Geneva. 25473709
  6. [217]Isela, R., R. Hernández, G.R. Quechol, et al 2005 Alimentación y estado nutricio de mujeres embarazadas derechohabientes del Instituto Mexicano del Seguro Social en un área suburbana de la Ciudad de México. Ginecol. Obs. Mex. 73: 3– 10. 15847143

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Authors
Whitfield, K. C., Bourassa, M. W., Adamolekun, B., Bergeron, G., Bettendorff, L., Brown, K. H., Cox, L., Fattal‐Valevski, A., Fischer, P. R., Frank, E. L., Hiffler, L., Hlaing, L. M., Jefferds, M. E., Kapner, H., Kounnavong, S., Mousavi, M. P. S., Roth, D. E., Tsaloglou, M., Wieringa, F., & Combs, G. F.
Affiliations
  • Mount Saint Vincent University (CA)
  • New York Academy of Sciences (US)
  • University of Tennessee Health Science Center (US)
  • University of Liège (BE)
  • Gates Foundation (US)
  • MRC Elsie Widdowson Laboratory (GB)
  • Tel Aviv University (IL)
  • Mayo Clinic (US)
  • University of Utah (US)
  • Médecins Sans Frontières (ES)
  • Ministry of Health and Sports (MM)
  • Centers for Disease Control and Prevention (US)
  • Independent contractor New York New York
  • Ministry of Health (LA)
  • Harvard University (US)
  • University of Toronto (CA)
  • Diagnostics For All (US)
  • Institut de Recherche pour le Développement (FR)
  • Tufts University (US)
Corresponding author
Combs, Gerald F.
Venue
Annals of the New York Academy of Sciences
Publisher
Wiley
Published
2018-08-27
Volume
1430
Issue
1
Pages
3-43
ISSN
  • 0077-8923 (ISSN-L)
  • 1749-6632
OpenAlex
W2889058844
Cited by
336
References
211
Citations by year
2026: 44 · 2025: 41 · 2024: 46 · 2023: 59 · 2022: 43 · 2021: 52 · 2020: 33 · 2019: 17 · 2018: 1
FWCI
17.45
Type
journal article
Language
en
Open access
Locations
  • Annals of the New York Academy of Sciences (publishedVersion, cc-by-nc)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
  • eScholarship (California Digital Library) (submittedVersion, cc-by-nc)
  • Medecins Sans Frontieres Field Research (Medecins Sans Frontieres) (submittedVersion)
  • Open Repository and Bibliography (University of Liège) (submittedVersion, cc-by)
Funders
Bill and Melinda Gates Foundation
Topics
  • Health Sciences › Medicine › Neurology › Alcoholism and Thiamine Deficiency
  • Health Sciences › Nursing › Nutrition and Dietetics › Child Nutrition and Water Access
  • Life Sciences › Agricultural and Biological Sciences › Food Science › Nutrition, Health, and Society Studies
Keywords
thiamine deficiency, beriberi, infantile beriberi, infant mortality, food fortification, thiamine supplementation, food balance sheets, grain milling, rice washing, micronutrient deficiency, prevalence, neurodevelopmental outcomes
MeSH terms
Food, Fortified, Humans, Public Health, Risk Factors, Thiamine Deficiency, Global Health, Prevalence, Dietary Supplements

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