Pompe Disease by Ray Sahelian, M.D.

Pompe disease or glycogen storage disease type II is a hereditary metabolic myopathy caused by the complete or partial deficiency of the enzyme acid alpha-glucosidase (also known as lysosomal alpha-glucosidase or acid maltase). This enzyme deficiency causes excess amounts of glycogen to accumulate in the lysosomes of many cell types but predominantly in muscle cells. The resulting cellular damage manifests as muscle weakness and/or respiratory difficulty.
     Generalised muscle weakness combined with an enlarged heart presents within the first few months after birth, if the lysosomal alpha-glucosidase (AGLU) deficiency is complete. Residual enzyme activity prevents cardiac involvement and delays onset of muscle weakness. Enzyme therapy, by intravenous administration of acid AGLU, aims to supplement the missing enzyme activity.

Enzyme Replacement Therapy

Enzyme replacement therapy (ERT) for lysosomal storage diseases did not become a reality until the early 1990s when its safety and effectiveness were demonstrated in type 1 Gaucher disease. Today, ERT is a reality for Gaucher disease, Fabry disease and mucopolysaccharidosis type I (MPS I), and clinical trials with recombinant human enzymes are ongoing in Pompe disease, MPS II and MPS VI, and are about to begin in Neimann-Pick B disease.

New Medication for Pompe Disease

Myozyme (alglucosidase alfa, Genzyme) was approved by the FDA for the treatment of patients with Pompe disease in June 2006.

Pompe Disease Research

Physical therapy management of Pompe disease.
Genet Med. 2006 May;8(5):318-27. Case LE, Kishnani PS. Division of Physical Therapy, Department of Community and Family Medicine, School of Medicine, Duke University Medical Center, Durham, NC 27707
Pompe disease, or acid maltase deficiency, is an autosomal recessive disorder characterized by deficiency of acid alpha-glucosidase resulting in intra-lysosomal accumulation of glycogen and leading to progressive muscle dysfunction. The natural history of infantile-onset Pompe disease is characterized by hypertrophic cardiomyopathy and profound generalized weakness presenting in the first few months of life, with rapid progression and death usually occurring by one year of age. Late-onset Pompe disease is characterized by onset of symptoms after one year of age, less severe or absence of cardiac involvement and slower progression, with symptoms primarily related to progressive dysfunction of skeletal muscles and respiratory muscle involvement. Recent clinical trials of enzyme replacement therapy have begun to allow greater opportunity for potential improvement in motor status, function, and survival than ever before, with hopes of moving toward maximizing physical function for individuals with Pompe disease. Children are living longer with some achieving independent sitting, creeping, and walking-milestones typically never achieved in the untreated natural history of the disorder.

Pompe Disease Questions
Q. Do you think lipoic acid is helpful in Pompe disease? What about CoQ10?
   A. I couldn't even guess, I have no idea.