Pompe disease, also known as acid maltase deficiency or glycogen storage disease type II, is caused by a mutations in a gene that reduces or eliminates production of the alpha-glucosidase (GAA) enzyme responsible for breaking down the body's stored form of sugar, known as glycogen. It is said to effect only five to ten thousand people in the world, qualifying it as a rare condition or disease. The build up of glygogen in the body, especially in the heart and skeletal muscles, in early onset infantile Pompe disease, can cause deadly cardiac or respiratory complications before a baby's first birthday.

According to the International Pompe Association, symptoms in the first months of life include feeding problems, poor weight gain, muscle weakness, floppiness, head lag, enlarged tongues and hearts, respiratory difficulties and lung infections. Symptoms of late onset juvenile Pompe due to partial deficiency of GAA include muscle weakness progressing to respiratory weakness risking death from respiratory failure after several years. When it is diagnosed via blood test or genetic screening, other family members may consult a genetic specialist. Enzyme replacement therapy in clinical trials with infantile-onset patients helps to decrease heart size, maintain normal heart function, improve muscle function, tone, and strength, and reduce glycogen accumulation. Current treatment research includes improving enzyme replacement therapy, gene therapy, and something known as pharmacological chaperones.

If a child, teen or young adult you love has been diagnosed with Pompe's disease, you can find information, resources and support at links from the Family Village website

Family Village - Glycogen Storage Diseases
http://www.familyvillage.wisc.edu/lib_gsd.htm

FDA Approves New Drug for Pompe Disease - Alglucosidase Alfa - Lumizyme
http://rarediseases.about.com/b/2010/05/27/fda-approves-new-drug-for-pompe-disease.htm

Browse at your local bookstore, public library or online retailer for resources for families who are experiencing the challenges of caregiving and treatment of rare conditions or diseases, or childrens books like Franklin Goes to the Hospital that can be reassuring to brothers, sisters and cousins as well as the child affected.

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