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.