The purpose of this study is to assess the existence of a genetic factor, suspected to be involved, aside from likely food deficiency contribution, in occurrence of dry beriberi, in patients who experienced dry beriberi and in a case group composed of 3 people, free from beriberi, within the same household.
A team of 2 investigators, a nurse and an investigator speaking French, Shibushi and Shimaore (3 languages in use in Mayotte), will visit exposed patients who agreed to participate to the study. 3 controls, fulfilling inclusion criteria, will be recruited within the household by drawing lots. Clinical examination and food survey by means of a questionnaire will be performed. Blood samples will be drawn to determine thiamine status, vitamin B1 dosage, erythrocyte transketolase activity and thiamine pyrophosphate effect, analysis will be performed by Biomnis laboratory in Lyon. For the genetic study, 4 drops of blood will be put down on Whatman paper and sent to Dr Johannes COY in Darmstadt Germany, for DNA extraction and PCR screening for mutations.
Study Type
OBSERVATIONAL
Enrollment
200
Central Hospital - MAYOTTE
Mamudzu, France
RECRUITINGMutations on one of the alleles of the promoter of the gene TKTL1 (transketolase-like gene) in the homozygous state in the patients and not in the controls (heterozygotes or not carrier of the mutation).
Time frame: day 1
To evaluate food intakes in vitamin B1 and anti-thiamine factors (polyphenols).
Time frame: day 1
To evaluate Thiamine biological status (blood thiamine, erythrocyte transketolase activity and the thiamine pyrophosphate effect)
Time frame: day 1
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