The hallmark of lysosomal storage disorders is lack of functional enzymes that can break down cells’ fats or carbohydrates.
Mutations of the GAA gene are the cause of Pompe disease. The abnormalities lead to the production of a faulty version of the acid alpha-glucosidase enzyme. This enzyme is responsible for breaking down a complex sugar molecule called glycogen into a form that cells can use to generate energy.
When the enzyme is faulty, damaging levels of glycogen build up inside cells, leading to the symptoms of the disease.
How many people have Pompe disease?
Experts estimate that 5,000 to 10,000 people have Pompe disease worldwide.
Because it is so rare, diagnosing it can be a challenge for doctors. This means that the number of people with the disorder may be higher than the estimates.
The number of people with Pompe disease varies greatly by region of the world.
A mutation screen in newborns suggested that it affects one in 40,000 people in the Netherlands. Many experts believe this to be an underestimation because the screening included only the three most common Pompe mutations — those accounting for 63 percent of the cases.
Pompe is much less common in Australia than Holland, with an incidence of one in 145,000 people. It is even rarer in Portugal, with one in 600,000 newborns diagnosed with it, based on acid alpha-glucosidase enzyme activity tests and genetic tests.
Incidence of infantile-onset Pompe disease
The incidence of infantile-onset Pompe disease varies between regions and ethnic groups. The frequency is estimated at one in 138,000 people in the Netherlands. In some countries, including China and Taiwan, and among certain ethnic populations, such as African-Americans, the incidence is as high as one in 14,000 people.
Incidence of late-onset Pompe disease
Late-onset Pompe disease is a milder form. Patients have functional acid alpha-glucosidase enzyme levels of between 2 and 40 percent, leading to slower glycogen buildup. The severity of symptoms and age of onset vary greatly from patient to patient.
Other than one study in the Netherlands estimating that one in 57,000 adults has late-onset Pompe disease, there is no information on its incidence.
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