Two eminently treatable genetic metabolic myopathies.

Woon-Chee Yee

Journal: Neurology India 2009;56(3):333-8

PMID: 18974560

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.

Address: Department of Clinical Research, Singapore General Hospital, Singapore. [email protected]

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