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Pompe Disease / Glycogen Storage Disease (GSD) - Type 2

Name of disease:

Pompe Disease

ICD-10 diagnosis code:

E74.0

Causes:

Pompe Disease is caused by mutations in a gene that makes an enzyme called alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen. But in Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme. Excessive amounts of glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected.

Pattern of inheritance:

Pompe disease is inherited in an autosomal recessive pattern. The risk for two carrier parents to both pass the mutated GAA gene and have an affected child is 25% with each pregnancy. The risk is the same for males and females.

Prevalence:

Pompe disease occurs in various populations and ethnic groups around the world. Estimates vary, but its incidence is generally placed at approximately 1 in 40,000 births in the United States and in the Netherlands. According to the newborn screening data from the National Taiwan University Hospital since 2005, the prevalence of Infantile-onset Pompe disease is approximately 1 in 40,000 while late-onset Pompe disease is approximately 1 in 20,000. Overall prevalence rate is around 1 in 15,000 births.

Diagnosis:

Blood test can be performed to check the GAA enzyme level. A gene test has to be further performed to diagnose Pompe disease if necessary.

Age of onset:

Infantile-onset: First months of life Late-onset: Childhood - adulthood

Common signs and symptoms:

Infantile-onset: Cardiomegaly Muscle weakness Enlarged tongue Difficulty breathing Failure to thrive Enlarged liver Late-onset: Progressive weakness in the proximal muscles, arm, leg, and lower limbs Respiratory muscle weakness Headache in morning Scoliosis Low back pain

Available treatments (medicinal and non-medicinal):

Enzyme replacement therapy (ERT) is an approved treatment for patients with Pompe disease.

Disease management tips:

Since Pompe disease can weaken muscles used for chewing and swallowing, adequate measures may be required to ensure proper nutrition and weight gain. Some patients may need specialized, high-calorie diets and may need to learn techniques to change the size and texture of food to lower the risk of aspiration.

References:

http://web.tfrd.org.tw/ https://www.worldpompe.org/pompe-disease/ https://rarediseases.org/rare-diseases/pompe-disease/

Acknowledgment

This page is contributed by Sanofi Hong Kong Limited.