Blom W, Fernandes J
Clin Chim Acta. 1979 Jan 15;91(2):117-25. doi: 10.1016/0009-8981(79)90445-5.
Hypersarcosinaemia is a rare inborn error of metabolism, caused by a deficiency of the sarcosine dehydrogenase complex with tetrahydrofolate as a formaldehyde acceptor needed for the sarcosine-glycine conversion. Prolonged therapy with folic acid on a hypersarcosinaemic patient resulted in a significant effect on the urinary excretion of sarcosine, leading to the conclusion that the patient has a folic acid dependent hypersarcosinaemia.
高肌氨酸血症是一种罕见的先天性代谢紊乱，由肌氨酸脱氢酶复合物缺乏引起，该复合物需要四氢叶酸作为肌氨酸-甘氨酸转化所需的甲醛受体。对一名高肌氨酸血症患者进行长期叶酸治疗后，其肌氨酸尿排泄量产生了显著变化，由此得出该患者患有叶酸依赖性高肌氨酸血症的结论。
