Pediatrics 2017 Jul;140(Suppl 1):S24-S45
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina
Download full-text PDF
Mol Genet Metab 2017 Nov 19;122(3):99-107. Epub 2017 Sep 19.
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address:
Objective: Newborn screening (NBS) has led to early diagnosis and early initiation of treatment for infantile onset Pompe Disease (IOPD). However, guidelines for management of late onset Pompe disease (LOPD) via NBS, especially with the IVS c.-32-13T>G are not clear. Read More
Pediatr Neonatol 2013 Aug 28;54(4):219-27. Epub 2013 Apr 28.
Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Pompe disease (glycogen storage disease type II or acid maltase deficiency) is a lysosomal disorder in which acid α-glucosidase (GAA) deficiencies lead to intralysosomal accumulation of glycogen in all tissues; most notably in skeletal muscles. Both the patient's age at the onset of Pompe disease symptoms and the rate of deterioration caused by the disease can vary considerably. In classical infant-onset Pompe disease (IOPD), symptoms start very early in life, and death occurs soon afterward if the disease remains untreated. Read More
Am J Med Genet C Semin Med Genet 2012 Feb 17;160C(1):1-7. Epub 2012 Jan 17.
DUMC, Durham, NC 27710, USA.
Pompe disease is an autosomal recessive neuromuscular disorder marked by progressive muscle weakness due to lysosomal buildup of glycogen. Presentation is described as a spectrum, varying by age of onset, organ involvement, and degree of myopathy. Given the phenotypic variability, Pompe disease is broadly classified into an infantile form and a late onset (juvenile, childhood, adult onset) form. Read More
J Neurol 2013 Apr 28;260(4):951-9. Epub 2012 Aug 28.
Department of Neurosciences, Psychiatry and Anesthesiology, AOU Policlinico "G. Martino", University of Messina, 98125 Messina, Italy.
Glycogen storage disease type 2/Pompe disease is a progressive muscle disorder with a wide range of phenotypic presentations, caused by an inherited deficiency of acid alpha-glucosidase. Since 2004 only a limited number of patients have been treated with recombinant human alpha-glucosidase from rabbit milk whereas since 2006 enzyme replacement therapy (ERT) with alglucosidase alfa has been licensed for the treatment of Pompe disease. This systematic review evaluates the clinical efficacy and safety of alglucosidase alfa treatment of juvenile and adult patients with late-onset Pompe disease (LOPD). Read More