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Thiamin.

Derrick Lonsdale¹

¹Cleveland Clinic, Cleveland, OH, United States.

Advances in Food and Nutrition Research

|February 26, 2018

Summary

This summary is machine-generated.

Thiamin deficiency, the cause of beriberi, presents diverse symptoms and is linked to genetic conditions and critical illnesses. Early detection and high-dose thiamin (vitamin B1) therapy are crucial for managing various health issues.

Keywords:

Beriberi Dysautonomia Epigenetics Genetics Mitochondria Transketolase

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Area of Science:

Biochemistry
Clinical Medicine
Nutritional Science

Background:

Beriberi is caused by thiamin (vitamin B1) deficiency, with varied symptoms often mistaken for psychosomatic disorders.
Thiamin deficiency is associated with malnutrition, genetic conditions, critical illness, and post-surgery complications, particularly after gastrointestinal bypass.

Purpose of the Study:

To review the history, symptoms, chemistry, and diagnosis of thiamin deficiency.
To highlight the diverse clinical implications of thiamin deficiency, including its role in genetic disorders, neurodegenerative diseases, and critical care settings.
To emphasize the potential therapeutic use of thiamin, including megadoses, in various conditions.

Main Methods:

Review of historical data and scientific literature on thiamin deficiency.
Outline of thiamin chemistry and laboratory diagnostic methodologies.
Discussion of clinical associations and therapeutic interventions for thiamin deficiency.

Main Results:

Thiamin deficiency symptoms are non-specific, leading to potential misdiagnosis.
Genetic conditions and epigenetic responsiveness to thiamin therapy are identified.
Thiamin deficiency is implicated in asymmetric dysautonomia, regional pain syndrome, and potentially SIDS and autism.

Conclusions:

Thiamin deficiency requires a high index of clinical suspicion due to its wide-ranging effects.
Megadose thiamin therapy is emerging as a treatment strategy for stimulating enzyme function and addressing mitochondrial dysfunction.
Understanding thiamin's role is critical for managing eating disorders, diabetes, neurodegenerative diseases, cancer, and postsurgical critical illness.