Two eminently treatable genetic metabolic myopathies

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