Truitt Chelsea, Hoff Wouter D, Deole Ratnakar
Department of Biochemistry and Microbiology, Oklahoma State University-Center for Health Sciences, Tulsa, OK, United States.
Department of Microbiology and Molecular Genetics, Oklahoma State University, Stillwater, OK, United States.
Front Nutr. 2021 Sep 9;8:690359. doi: 10.3389/fnut.2021.690359. eCollection 2021.
Homocystinuria is a medical condition that can have widespread and harmful effects on multiple organ systems within the body. This disease is caused by a deficiency in one of the enzymes involved in the methionine metabolism pathway. One example would be a deficiency in cystathionine-β-synthase (CBS), which is seen in classical homocystinuria. A deficiency in CBS can lead to elevated levels of homocysteine (HCY) and possible depletion of methionine and/or cysteine. There are several different treatment options for patients with this condition, one of which is the administration of the drug betaine. Here we review the use of betaine to decrease these elevated levels of homocysteine back to within normal ranges. Published literature indicates that the use of this choline derivative is most beneficial to patients who are either not compliant with the recommended low methionine and low protein diet or wish to consume a less restricted diet.
同型胱氨酸尿症是一种会对体内多个器官系统产生广泛有害影响的病症。这种疾病是由甲硫氨酸代谢途径中一种酶的缺乏引起的。一个例子是胱硫醚-β-合成酶（CBS）缺乏，这在典型的同型胱氨酸尿症中可见。CBS缺乏会导致同型半胱氨酸（HCY）水平升高，并可能导致甲硫氨酸和/或半胱氨酸的消耗。对于患有这种病症的患者有几种不同的治疗选择，其中之一是给予药物甜菜碱。在此我们回顾甜菜碱的使用，以将这些升高的同型半胱氨酸水平降低回到正常范围内。已发表的文献表明，这种胆碱衍生物的使用对那些不遵守推荐的低甲硫氨酸和低蛋白饮食或希望食用限制较少饮食的患者最为有益。
