Lonsdale D
J Am Coll Nutr. 1990 Feb;9(1):13-7. doi: 10.1080/07315724.1990.10720344.
Three family members are reported with functional symptoms considered to be caused by intracellular deficiency of thiamin. Persistence of desaturation of erythrocyte transketolase in the face of megadose thiamin hydrochloride (THCl), accompanied by a balanced multivitamin and mineral formula, suggested a familial thiamin dependency state. Each of three individuals responded clinically to the administration of thiamin tetrahydrofurfuryl disulfide (TTFD), and erythrocyte transketolase (TKA) became fully saturated with thiamin pyrophosphate (TPP). Dysautonomic symptoms observed are compared with those seen in classical beriberi, the nutritional prototype for dysautonomia, and changes in blood pressure are described which support this premise. Although there is no proof from the laboratory, it is hypothesized that the biochemical lesion might be due either to malabsorption of thiamin or its inadequate phosphorylation.
据报道，三名家庭成员出现了被认为是由硫胺素细胞内缺乏引起的功能性症状。面对大剂量盐酸硫胺素（THCl）时，红细胞转酮醇酶持续不饱和，同时伴有均衡的多种维生素和矿物质配方，提示为家族性硫胺素依赖状态。三名个体中的每一个对硫胺素四氢糠基二硫化物（TTFD）的给药均有临床反应，并且红细胞转酮醇酶（TKA）被硫胺素焦磷酸（TPP）完全饱和。将观察到的自主神经功能障碍症状与在经典脚气病（自主神经功能障碍的营养原型）中所见症状进行了比较，并描述了支持这一前提的血压变化。尽管实验室没有证据，但据推测生化损伤可能是由于硫胺素吸收不良或其磷酸化不足所致。
