Acid maltase deficiency, also known as Pompe disease, is inherited and caused by a gene mutation causing a buildup of glycogen sugar in the cells (1). It is named after Johannes C. Pompe who discovered the order in 1932 (2). Pompe disease is a rare disease and only affects 1 in 40,000 people in the U.S. (1). In infants, the disease is found more in African-Americans and people from southern China and Taiwan. In adults, the disease is found more often in the Netherlands. (3) Although Acid maltase deficiency has a wide range of effects for different ages, the main thing it does is cause weakness in the muscles, making it hard to climb or breathe, especially while laying down (2).
There are three types of pompe disease which affect different ages. Classic infantile-onset Pompe disease starts a few months after birth. On symptom of that is myopathy, muscle weakness. Another is hypotonia, bad muscle tone, and hepatomegaly which is an enlarged liver. One more symptom of classic Infantile-onset Pompe disease is heart problems. Another type of pompe disease is non-classic Infantile-onset Pompe disease which usually appears by age 1(1). One symptom is an enlarged heart (cardiomegaly) causing breathing problems (1 and 2). Also, the infant’s motor skills such as lifting its head or siting up could be delayed. He/she will also have trouble walking because their muscles are weak. It will look as if it was between a waddle and a limp. Children with this type of pompe disease usually only live until their early childhood. The third type of pompe disease is late-onset pompe disease which takes place later in a person’s life (1). As people with this disorder get older, the symptoms differ between men and women. Once women with pompe disease get to about 20 years old, her muscles will ache and she will get tired after climbing stairs. Symptoms in men start a little later than women, when they are around 37 years old. What happens is they fall asleep during the day and have trouble breathing when they lie down (2).
One way to test for acid maltase deficiency is by an enzyme assay. What that does is measure the activity of the acid alpha-glucosidase enzyme. If someone does have the disease, they would have a lower than normal GAA activity level, sometimes even none. Today, enzyme assays can be performed by blood tests, samples of skin cells, or muscle tissue for accurate results. Another way to test for pompe disease is mutation analysis (also called genotyping). This method uses a DNA sample to see if the person has the gene mutation that causes pompe disease (6). A few ways to prevent pompe disease is to wash your hands often, get medical help even when small things happen such as coughing or a fever, and get pneumococcal vaccines (7). There is no cure for acid maltase deficiency but there are some ways to make it better. Since there are so many different symptoms, the treatments differ for each patient’s needs. Before recent research was done, therapy took pace to ease the effects of the disease. But today, Enzyme replacement therapy can be done to replace the acid alpha-glucosidase (GAA) enzyme “to decrease heart size, maintain normal heart function, improve muscle function, tone, and strength, and reduce glycogen accumulation” (4). Patients with pompe disease usually need to be treated by a team of doctors because every person with it is different (5). Other treatments can be a drug called alglucosidase alfa (myozyme) which is used for infants and children with the disease, and another algluosidase alfa drug (lumizyme0) which is used for people with late-onset pompe disease (4). The life expectancy of babies that have not had enzyme replacement therapy is before 1 year old. They die from either cardiorespiratory failure or a respiratory infection. The prognosis of people with late-onset pompe disease depends on when the symptoms start showing. The later that is, the slower the disease progresses (4). Acid Maltase