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Thiamine deficiency disorders: diagnosis, prevalence, and a roadmap for global control programs
Open accessAbstract
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 (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.”
From Vitamins and Minerals for Energy, Fatigue and Cognition: A Narrative Review of the Biochemical and Clinical Evidence (2020) · cites this paper as [99]
In the citing paper
“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”
From Vitamins and Minerals for Energy, Fatigue and Cognition: A Narrative Review of the Biochemical and Clinical Evidence (2020) · cites this paper as [99]
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“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.”
From Vitamins and Minerals for Energy, Fatigue and Cognition: A Narrative Review of the Biochemical and Clinical Evidence (2020) · cites this paper as [99]
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“0 L/min/m(2), ultimately leads to cardiac remodelling and congestive heart failure.(2) Diagnosis of Shoshin beriberi is often difficult due to its vague and nonspecific symptoms, including general weakness, shortness of breath, haemodynamic instability, lactic acidosis, unexplained high-output heart failure, and multi…”
BackgroundBhat, R., Tirlangi, P. K., Ravindra, P., & Balakrishnan, J. M. (2021) · The American Journal of Emergency Medicine · doi:10.1016/j.ajem.2021.06.015 · Cited by 2
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“Due to the vagueness of an undetermined upper limit and non-standardized testing protocols [3,9], our patient was not directly tested for thiamine deficiency prior to or after administration of thiamine.”
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“Additional risk factors for B1 deficiency include a monotonous diet with starchy, thiamine-poor staple foods such as polished rice or cassava (manioc), and the habitual consumption of thiamine antagonists found in foods like betel nuts and certain teas [31].”
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“It is known that thiamine deficiency becomes one of the causes of various edema (13), brain cytotoxic edema and vasogenic edema (14, 15), and local edema in muscles (16).”
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“However, information on thiamine status has not been well documented due to the dearth of population-level biomarker data, hampering the determination of the global and regional prevalence of thiamine deficiency disorders (TDDs) 1 .”
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“Furthermore, nutrition deficiencies should be considered among those from areas facing war, famine, or natural disasters where there may be interruptions in food supply chains or an increased reliance on milled grains [5].”
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“TDP is an integral cofactor for enzymes in the Krebs cycle and pentose phosphate pathway [8,10-12].”
BackgroundHigh-resolution plasma metabolomics and thiamine status in critically ill adult patients
Gündoğan, K., Nellis, M. M., Özer, N. T., Ergül, S. Ş., Temel, Ş., Temel, Ş., Yüksel, R. C., Teeny, S. N., Alvarez, J. A., Sungur, M., et al. (2024) · Journal of Critical Care · doi:10.1016/j.jcrc.2024.154569
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Reply to: Comment on: Malnutrition in heart failure with preserved ejection fraction
Brinza, E. K., & Flint, K. M. (2024) · Journal of the American Geriatrics Society · doi:10.1111/jgs.18954
Non-alcoholic Wernicke’s Encephalopathy Masquerading As CNS Relapse of Acute Myeloid Leukemia
Chaudhary, A. J., Joyce, K. M., Haq, K., Qureshi, M. H., & Donthireddy, V. (2024) · Cureus · doi:10.7759/cureus.61184
“A lack of thiamine can lead to inadequate energy production and an accumulation of metabolites that can cause damage to high-energy-dependent tissues, particularly central and peripheral neurons [6].”
BackgroundThiamine Deficiency Secondary to Pain-Induced Oral Aversion
Cusack, B., Paul, D. J., Kochar, P. S., Weston, T., Nelsen, J. L., & Williams, K. E. (2024) · Clinical Pediatrics · doi:10.1177/00099228241286239
In silico, in vitro, and in vivo characterization of thiamin-binding proteins from plant seeds
Faustino, M. V., Strobbe, S., Sanchez‐Muñoz, R., Cao, D., Mishra, R. C., Lourenço, T. F., Oliveira, M. M., & Straeten, D. V. D. (2025) · Biochemical Journal · doi:10.1042/bcj20240429
“These enzymes are integral to tricarboxylic acids and other acetyl Co-A-dependent pathways (e.g. fatty acids synthesis/breakdown and mevalonate-dependent pathways), as well as to amino acid pathways [1].”
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Miocarditis aguda en la enfermedad de Shoshin
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Rice genetic variations provide information on the potential to reduce thiamin deficiencies
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Acute myocarditis in Shoshin disease
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Significance of Vitamins in Health Promotion and Disease Prevention
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Wernicke Encephalopathy in an Adolescent With Severe Genetic Obesity and Hyperphagia
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“11 Of note, these vitamin deficiencies are often underdiagnosed due to limited diagnostic guidelines and biomarkers.”
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Gastrointestinal Beriberi Presenting With Chronic Diarrhea: A Case Report
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“However, serum thiamine assays are not always readily available and, even when they can be performed, the measured levels may show considerable variability and can be affected by sampling and handling conditions, limiting their reliability as a diagnostic marker [18].”
Metadata
- 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.
- ORCID
- 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
- PMC
- PMC6392124
- 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
- hybrid
- doi.org
- Licence
- 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 › Clinical 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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