[Malabsorption and vitamin B1 deficiency in familial acrodystrophic neuropathies (author's transl)].
9 members of 4 families with familial acrodystrophic neuropathies were investigated. Lowered levels of vitamin B1 (thiamine pyrophosphate) were found in all cases except one. In this patient, as in 10 healthy control persons, normal values were obtained. The D-xylose test, which was carried out in 4 patients from 3 families, revealed intestinal malabsorption in all cases. It is suggested that malabsorption and deficiency of vitamin B1 as demonstrated in this report play a role in the development of these familial disorders.
D000328:Adult; D005260:Female; D006801:Humans; D008286:Malabsorption Syndromes / Q000209:etiology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009422:Nervous System Diseases / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D012883:Skin Ulcer / Q000209:etiology* / Q000235:genetics; D013832:Thiamine Deficiency / Q000209:etiology* / Q000235:genetics
Malabsorption und Vitamin-B1-Mangel bei familiären ulzeromutilierenden Neuropathien