Partsch H, Washüttl J
Wien Klin Wochenschr. 1976 Jun 11;88(12):391-3.
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.
对4个患有家族性肢端营养不良性神经病的家庭中的9名成员进行了调查。除1例患者外，所有病例均发现维生素B1（硫胺素焦磷酸）水平降低。在该患者中，与10名健康对照者一样，获得了正常数值。对来自3个家庭的4名患者进行的D-木糖试验显示，所有病例均存在肠道吸收不良。本报告中所证明的吸收不良和维生素B1缺乏在这些家族性疾病的发生中起作用。
