Yee Woon-Chee
Department of Clinical Research, Singapore General Hospital, Singapore.
Neurol India. 2008 Jul-Sep;56(3):333-8. doi: 10.4103/0028-3886.43452.
Treatment of the genetic metabolic myopathies remains generally unsatisfactory with the exception of a select few. Multiple Acyl Co-A Dehydrogenase Deficiency (Glutaric Aciduria type II), in particular, has been shown to respond well to riboflavin supplementation. Recently, studies have also confirmed the effectiveness of recombinant enzyme replacement therapy for Acid Maltase Deficiency (Pompe's Disease). Accurate and early diagnosis of these diseases is vital to prevent serious complications and impaired recovery following delayed treatment.
除了少数几种疾病外，遗传性代谢性肌病的治疗总体上仍不尽人意。特别是多种酰基辅酶A脱氢酶缺乏症（II型戊二酸尿症），已证明对补充核黄素反应良好。最近，研究也证实了重组酶替代疗法对酸性麦芽糖酶缺乏症（庞贝氏病）的有效性。准确、早期诊断这些疾病对于预防严重并发症以及延迟治疗后恢复受损至关重要。
