title: Two eminently treatable genetic metabolic myopathies.
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.
authors.affiliation: Department of Clinical Research, Singapore General Hospital, Singapore. yee.woon.chee@sgh.com.sg
authors.forename: Woon-Chee
authors.initials: WC
authors.lastname: Yee
mesh_terms: D006009:Glycogen Storage Disease Type II / Q000175:diagnosis / Q000188:drug therapy*; D006801:Humans; D054069:Multiple Acyl Coenzyme A Dehydrogenase Deficiency / Q000175:diagnosis / Q000188:drug therapy*; D011994:Recombinant Proteins / Q000627:therapeutic use; D012256:Riboflavin / Q000627:therapeutic use; D014803:Vitamin B Complex / Q000627:therapeutic use; D000520:alpha-Glucosidases / Q000627:therapeutic use
chemical_list: D011994:Recombinant Proteins; D014803:Vitamin B Complex; D000520:alpha-Glucosidases; D012256:Riboflavin