Management of the condition

Pompe disease affects multiple body systems; management therefore requires a multidisciplinary team approach.

Optimal management broadly comprises treatment of clinical manifestations, prevention of primary and secondary manifestations, and ongoing monitoring. 

Initial Treatment and Prevention of Primary Manifestations: 

Enzyme replacement therapy 

In normal individuals acid α-glucosidase (GAA) enzymes are synthesised by the cell, glycoslyated and phosphorylated to provide the mannose-6-phosphate residue that targets it to the lysosome. Mannose-6-phosphate receptors on the surface of the cell bind to and re-internalise GAA enzyme that has been secreted outside the cell, delivering it back to the lysosome.In Pompe disease, enzyme replacement therapy (ERT) targets this receptor-meditated reuptake system to deliver exogenous enzyme to the lysosome. ERT supplements low/absent GAA enzymes to change the natural course of the disease.It should be initiated as soon as the Pompe disease has been definitively diagnosed.

Negative cross-reactive immunological material (CRIM) status in patients with infantile-onset Pompe disease is associated with the development of anti-rhGAA IgG antibodies, which significantly reduce the effectiveness of ERT.3, 4 

Prevention of Secondary Complications

Individuals with Pompe disease are at very high risk of pneumonia and other infections. It is recommended that:1

  • Infections are aggressively managed.
  • Immunisations are kept current.
  • Patients and household members receive annual influenza vaccinations.
  • Respiratory syncytial virus (RSV) prophylaxis is administered in the first two years.




  1. 1.Klshnanl PS, Steiner RD, Boll D, Berger K, Byrne BJ, Cose LE. Pompe disease diagnosis and management guideline. Genet Med. 2006;8.
  2. 2.Lim JA, Li L, Raben N. Pompe disease: from pathophysiology to therapy and back again. Front Aging Neurosci. 2014;6:177.
  1. 3.Banugaria SG, Prater SN, Ng YK, et al. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genet Med. 2011;13:729-36.
  2. 4.Kishnani PS, Goldenberg PC, DeArmey SL, et al. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010;99:26-33.