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Alterations of the cardiovascular system, especially tachycardia rapid heart rate  Convulsions occasionally observed in the terminal stages  Cause[ edit ] Beriberi may also be caused by shortcomings other than inadequate intake: diseases or operations on the digestive tract, alcoholism ,  dialysis , genetic deficiencies , etc.
In alcohol abusers , autopsy series showed neurological damages at rates of In addition, uncounted numbers of people can experience fetal damage and subsequent diseases. Genetics[ edit ] Genetic diseases of thiamine transport are rare but serious. Thiamine responsive megaloblastic anemia TRMA with diabetes mellitus and sensorineural deafness  is an autosomal recessive disorder caused by mutations in the gene SLC19A2 ,  a high affinity thiamine transporter.
TRMA patients do not show signs of systemic thiamine deficiency, suggesting redundancy in the thiamine transport system. This has led to the discovery of a second high-affinity thiamine transporter, SLC19A3. Pathological similarities between Leigh disease and WE led to the hypothesis that the cause was a defect in thiamine metabolism. One of the most consistent findings has been an abnormality of the activation of the pyruvate dehydrogenase complex.
Other disorders in which a putative role for thiamine has been implicated include subacute necrotising encephalomyelopathy , opsoclonic cerebellopathy a paraneoplastic syndrome , and Nigerian seasonal ataxia. In addition, several inherited disorders of ThDP-dependent enzymes have been reported,  which may respond to thiamine treatment. A derivative of thiamine, thiamine pyrophosphate TPP , is a cofactor involved in the citric acid cycle , as well as connecting the breakdown of sugars with the citric acid cycle.
The citric acid cycle is a central metabolic pathway involved in the regulation of carbohydrate, lipid, and amino acid metabolism, and its disruption due to thiamine deficiency inhibits the production of many molecules including the neurotransmitters glutamic acid and GABA. Alternatively, thiamine and its phosphphosphorylated derivatives, can directly be detected in whole blood, tissues, foods, animal feed, and pharmaceutical preparations following the conversion of thiamine to fluorescent thiochrome derivatives Thiochrome assay and separation by high-performance liquid chromatography HPLC.
Treatment[ edit ] Many people with beriberi can be treated with thiamine alone. If concentrated thiamine supplements are not available, thiamine-rich diets e. When the relationship between the polishing of rice and the disease became clear, the deficiency could be treated and prevented by including inexpensive rice bran in the diet, among other things.
Beriberi caused by inadequate nutritional intake of thiamine is rare today in developed countries[ citation needed ] because of quality of food and the fact that many foods are fortified with vitamins.
In , an outbreak of beriberi occurred in a detention center in Taiwan. Displaced populations , such as refugees from war, are susceptible to micronutritional deficiency, including beriberi. Hong called the illness by the name jiao qi, which can be interpreted as "foot qi ".
He described the symptoms to include swelling, weakness and numbness of the feet. He also acknowledged that the illness could be deadly, and claimed that it could be cured by eating certain foods such as fermented soybeans in wine. Better known examples of early descriptions of "foot qi" are by Chao Yuanfang who lived during — in his book Zhu bing yuan hou lun Sources and Symptoms of All Diseases   and by Sun Simiao — in his book Bei ji qian jin yao fang Essential Emergency Formulas Worth a Thousand in Gold.
The voyage lasted more than nine months and resulted in cases of sickness and 25 deaths on a ship of men. With the support of the Japanese Navy, he conducted an experiment in which another ship was deployed on the same route, except that its crew was fed a diet of meat, fish, barley, rice, and beans.
At the end of the voyage, this crew had only 14 cases of beriberi and no deaths. This convinced Takaki and the Japanese Navy that diet was the cause. In , Christiaan Eijkman , a Dutch physician and pathologist , demonstrated that beriberi is caused by poor diet, and discovered that feeding unpolished rice instead of the polished variety to chickens helped to prevent beriberi. The following year, Sir Frederick Hopkins postulated that some foods contained "accessory factors"—in addition to proteins, carbohydrates, fats, and salt—that were necessary for the functions of the human body.
Etymology[ edit ] Although according to the Oxford English Dictionary , the term "beriberi" comes from a Sinhalese phrase meaning "weak, weak" or "I cannot, I cannot", the word being duplicated for emphasis,  the origin of the phrase is questionable.
It has also been suggested to come from Hindi, Arabic and a few other languages, with many meanings like "weakness", "sailor" and even "sheep". Such suggested origins were listed by Heinrich Botho Scheube among others. Edward Vedder wrote in his book Beriberi that "it is impossible to definitely trace the origin of the word beriberi". Word berbere was used in writing at least as early as by Diogo do Couto , when he described the deficiency in India.
This was, at least, the opinion in the s. In young chicks, it can appear before two weeks of age. Onset is sudden in young chicks. There is anorexia and an unsteady gait. Later on, there are locomotor signs, beginning with an apparent paralysis of the flexor of the toes. The characteristic position is called "stargazing", meaning a chick "sitting on its hocks and the head in opisthotonos ".
Response to administration of the vitamin is rather quick, occurring a few hours later. In riboflavin deficiency, the "curled toes" is a characteristic symptom. Muscle tremor is typical of avian encephalomyelitis. A therapeutic diagnosis can be tried by supplementing thiamine only in the affected bird. If the animals do not respond in a few hours, thiamine deficiency can be excluded. Ruminants[ edit ] Polioencephalomalacia PEM is the most common thiamine deficiency disorder in young ruminant and nonruminant animals.
Symptoms of PEM include a profuse, but transient, diarrhea, listlessness, circling movements, star gazing or opisthotonus head drawn back over neck , and muscle tremors. These bacteria produce thiaminases that will cause an acute thiamine deficiency in the affected animal. This is often a problem observed in captivity when keeping garter and ribbon snakes that are fed a goldfish-exclusive diet, as these fish contain thiaminase, an enzyme that breaks down thiamine.
It affects primarily 0. Researches noted, "Because the investigated species occupy a wide range of ecological niches and positions in the food web, we are open to the possibility that other animal classes may suffer from thiamine deficiency as well. More recently, species of other classes seems to be affected. Lack of thiamine is the common denominator where analysis is done. In April , the County Administrative Board of Blekinge found the situation so alarming that they asked the Swedish government to set up a closer investigation.
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