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Year : 2008  |  Volume : 56  |  Issue : 3  |  Page : 333--338

Two eminently treatable genetic metabolic myopathies

Department of Clinical Research, Singapore General Hospital, Singapore

Correspondence Address:
Woon-Chee Yee
#03-03, Block C, Singhealth Research Facilities, 9 Hospital Drive, 169612
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.43452

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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.


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Online since 20th March '04
Published by Wolters Kluwer - Medknow