Beri-beri E51.1

Symptoms caused by vitamin_B1(thiamine) deficiency. Thiamine occurs naturally in plant and animal tissues in varying concentrations, such as in high concentrations in yeast, in the silverskin of the rice grain, in wheat, rye and barley seedlings. Furthermore, egg yolk, milk, liver, kidney, asparagus, spinach, nuts and fish are rich in vitamin B1.

Especially Southeast Asian countries (endemic in some areas of Indonesia), where polished or husked rice is the staple food. Thiamine deficiency is very rare in a normally balanced diet. It can occur in severe, chronic alcoholism.

Neurological and cardiac symptoms are in the foreground: headache, fatigue, insomnia, paresthesia, weakening of tendon reflexes, neuritis (small-fiber neuropathies have been shown in severe alcoholism with concomitant thiamine deficiency; Mellion ML et al (2014), tachycardia, heart failure, edema, hyperhidrosis. In severe alcoholism, the resulting thimain deficiency can lead to Wernicke-Korsakoff syndrome (de la Monte et al. SM 2018). Skin alterations in chronic thiamine deficiency are rather rare. Small-fiber neuropathies can be accompanied by itching. Hyperpigmentation has been described in long-term thiamine deficiency via bone protrusions, the buccal mucosa, palmo-plantar keratoderma and nail dystrophin (Lee BY et al. 2006)

Substitution of vitamin_B1 400-600 mg/week i.m. (e.g. vitamin_B1 Hevert®), in severe cases also daily injection of 200 mg thiamin/day slowly deep i.m., after a few days conversion to oral medication (e.g. vitamin_B1 25 Jenapharm®) 50-150 mg/day depending on the severity of the illness. Prophylactic dosage in the case of low vitamin B1 nutrition: 1-2 mg/day p.o.

Vitamin B1 is absorbed in the intestine via a thiamine transporter. In thiamine-responsive megaloblastic anaemia (TRMA), different mutations in the SLC19A2 gene are present (Potter K et al. 2017). These mutations lead to the inability of the thiamine transporter to function. As a result, thiamine can no longer be sufficiently absorbed from the intestine. This leads to the clinical picture of TRMA (diabetes mellitus type 1, deafness, megaloblastic anaemia, cardiac dysfunction). The disease leads to death if untreated.

1. Abdul-Muneer PM et al (2018) Impairment of Thiamine Transport at the GUT-BBB-AXIS Contributes to Wernicke's Encephalopathy in chronic alcohol users. Mol Neurobiol. 2017 Nov 11. doi: 10.1007/s12035-017-0811-0.
2. Ammon H et al (2014). Hunnius Pharmaceutical Dictionary. Walter de Gruyter GmbH . Berlin/Boston S 1894-1895
3. De la Monte SM et al (2014) Human alcohol-related neuropathology. Acta neuropath 127:71-90.
4. Lee BY et al (2006) Personal observation of skin disorders in malnutrition. Clin Dermatol 24:222-227.
5. Mellion ML et al (2014) Small-fiber degeneration in alcohol-related peripheral neuropathy. Alcohol Clin Exp Res 38:1965-1972.
6. Potter K et al (2017) Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic
   anemia (TRMA) treated with thiamine supplementation. J Pediatr Endocrinol Metab 30:241-246.