Mundy H R, Williams J E, Cousins A J, Lee P J
Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
J Inherit Metab Dis. 2006 Feb;29(1):226-9. doi: 10.1007/s10545-006-0238-7.
Adult-onset glycogen storage disease type II (GSD II) (McKusick 232300) is a progressive disabling myopathy. At present there is no treatment of proven clinical efficacy. Enzyme replacement therapy may in the future provide benefit but it will be costly and is not yet freely available. L-Alanine, a simple and relatively cheap therapy, has been shown to reduce protein degradation in GSD II patients but has not previously been assessed for clinical benefit in a controlled study. In this study L-alanine was assessed in a double blind, placebo-controlled, crossover n = 1 study. Assessments consisted of spirometry, cardiopulmonary exercise testing, quality of life measurements, biochemical markers and assessment by the criterion 4-component model of body composition. Alanine therapy was associated with a 15% gain in total body protein. However, the patient showed no functional improvement and reported feeling worse after treatment. Further controlled studies in a small group may be warranted, but not widespread use of this therapy.
成人型糖原贮积病II型（GSD II）（麦库西克编号232300）是一种进行性致残性肌病。目前尚无经证实具有临床疗效的治疗方法。酶替代疗法未来可能会带来益处，但成本高昂且尚未广泛应用。L-丙氨酸是一种简单且相对便宜的治疗方法，已被证明可减少GSD II患者的蛋白质降解，但此前尚未在对照研究中评估其临床益处。在本研究中，对L-丙氨酸进行了一项双盲、安慰剂对照、交叉的n = 1研究。评估包括肺活量测定、心肺运动测试、生活质量测量、生化标志物以及通过身体成分的标准四成分模型进行评估。丙氨酸治疗使全身蛋白质增加了15%。然而，患者的功能并未改善，且报告治疗后感觉更糟。可能有必要在一小群患者中进行进一步的对照研究，但这种疗法不应广泛使用。
