Jürgens P, Schwartau M, Doehn M
Infusionsther Klin Ernahr. 1982 Dec;9(6):312-6.
Report on a serious disturbance of amino-acid metabolism in a 56 year old male patient suffering from thiamine-(vitamin B-1) deficiency, as proven by clinical history and examination and by laboratory data. In comparison with a group of 75 normal male persons also evaluated by the same laboratory this patient--while thiamine deficient--had markedly elevated serum concentrations outside the physiologic range of glutamic acid, glutamine, proline, citrulline, ornithine, histidine, lysine, phenylalanine, tyrosine and leucine, whereas his serum concentrations of taurine, serine and isoleucine were comparably definitely lowered. Following six to seven days of daily i.m. injections of 200 mg of thiamine each, this imbalance of amino-acid homeostasis disappeared except for that of taurine and--questionably--that of phenylalanine. In view of the absence of other exogenous or endogenous potential causes for this, it must be presumed that the thiamine-pyrophosphate deficiency caused the imbalance of amino-acid metabolism by consecutively disturbing the function of the alpha-ketoglutarate-, pyruvate- and p-hydroxy-phenylpyruvate- decarboxylase chains respectively. Possible connections between thiamine-deficiency and lowered serum concentrations of serine, taurine and isoleucine are being discussed.
关于一名56岁男性患者严重氨基酸代谢紊乱的报告。该患者患有硫胺素（维生素B-1）缺乏症，这已通过临床病史、检查及实验室数据得到证实。与同一实验室评估的75名正常男性相比，该患者在硫胺素缺乏的情况下，谷氨酸、谷氨酰胺、脯氨酸、瓜氨酸、鸟氨酸、组氨酸、赖氨酸、苯丙氨酸、酪氨酸和亮氨酸的血清浓度显著升高，超出生理范围，而其牛磺酸、丝氨酸和异亮氨酸的血清浓度则明显降低。每天肌肉注射200毫克硫胺素，持续六至七天后，除牛磺酸以及（存在疑问的）苯丙氨酸外，这种氨基酸稳态失衡现象消失。鉴于不存在其他可能导致此现象的外源性或内源性因素，推测硫胺素焦磷酸缺乏分别通过连续干扰α-酮戊二酸、丙酮酸和对羟基苯丙酮酸脱羧酶链的功能，导致了氨基酸代谢失衡。文中还讨论了硫胺素缺乏与丝氨酸、牛磺酸和异亮氨酸血清浓度降低之间的可能联系。
