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Neurology India
Medknow Publications on behalf of the Neurological Society of India
ISSN: 0028-3886
EISSN: 1998-4022
Vol. 56, No. 3, 2008, pp. 333-338
Bioline Code: ni08084
Full paper language: English
Document type: Review Article
Document available free of charge

Neurology India, Vol. 56, No. 3, 2008, pp. 333-338

 en Two eminently treatable genetic metabolic myopathies
Yee, Woon-Chee

Abstract

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.

Keywords
Acid maltase deficiency, enzyme replacement therapy, glutaric aciduria Type II, human recombinant α-glucosidase, multiple Co-A dehydrogenase deficiency, Pompe disease, riboflavin

 
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