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.
journal_name
Neurol Indiajournal_title
Neurology Indiaauthors
Yee WCdoi
10.4103/0028-3886.43452subject
Has Abstractpub_date
2008-07-01 00:00:00pages
333-8issue
3eissn
0028-3886issn
1998-4022journal_volume
56pub_type
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