Pompe disease and diet
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Among the many consequences of the progressive muscle weakness characterizing Pompe disease is its potential impact on muscles needed to suckle, chew, swallow, and digest food, which can affect a person’s diet and lead to difficulties in maintaining an adequate nutritional status.
A healthy diet is necessary for everyone’s overall health — not just people with Pompe disease — but for patients, inadequate nutrition may also contribute to disease progression.
After a Pompe diagnosis, ensuring a well-balanced diet and exercise program may help patients, especially those with late-onset Pompe disease (LOPD), to have more energy, making it easier to be active and maintain a good quality of life.
While there is no one specialized Pompe disease diet, research suggests certain approaches may be beneficial for Pompe patients.
High-protein diets and supplements
Muscle weakness is one of the hallmark Pompe disease symptoms. The genetic disorder is caused by mutations in the GAA gene that ultimately lead to the excessive buildup in cells of glycogen, a complex form of glucose (sugar) that the body uses for energy.
A number of studies have suggested that a high-protein diet, especially when combined with appropriate exercise and Pompe disease treatments, may be able to reduce glycogen buildup and slow muscle tissue loss for some patients.
For example, in one small study, a high protein diet combined with a structured exercise program and enzyme replacement therapy for about six months was associated with gains in quality of life and lung function for LOPD patients. Those results were relative to exercise alone or no intervention.
Another small, randomized, controlled clinical trial found that a 12-week tailored intervention consisting of physical exercise and a high-protein diet improved muscle strength, stability, quality of life, and parent-reported fatigue for children with Pompe disease.
However, not all studies have found that patients respond to a high-protein diet. Research into the potential benefits of this and other diets for Pompe is ongoing, and randomized, controlled clinical trials are still needed.
It’s also important to note that every individual’s dietary needs may be different, based on age, sex, and how active the person is, among other factors. Patients should always talk with their healthcare team before making a change to their diet.
High-protein foods
Based on the concept of eating more protein but fewer carbohydrates, a recommended high-protein diet typically involves about 25%-30% protein, 30%-35% carbohydrates, and 35%-40% fat.
Examples of high protein foods include:
- meat and poultry
- fish
- eggs
- dairy
- seeds and nuts
- beans and lentils
- tofu and other soy products.
Animal-based protein sources, including meat, fish, eggs, and dairy, as well as some plant-based sources such as beans and leafy greens, are rich in alanine, a type of amino acid or protein building block.
Alanine helps the body metabolize glucose to make energy for muscles and nerves. Thus, it is thought that alanine supplements may be of benefit for some children and adults with Pompe disease, although this has not been validated in a controlled clinical trial.
Because glucose comes from the carbohydrates that people eat and drink, it is recommended that carbohydrate intake be spaced out in small, frequent portions throughout the day. Doing so may help to avoid both glycogen buildup and low blood sugar levels. Carbohydrates should be consumed in the form of whole grains, legumes, or fruits, rather than in foods high in processed sugars, such as soda, candy, or sweets.
Fats should include both omega-3 fatty acids, which are found in fish and dietary supplements, and omega-6 fatty acids, usually found in olive oil, dried fruit, and some cereals.
Other diets and supplements
Another low carbohydrate eating plan, called the ketogenic diet, also is under investigation for Pompe disease. This diet involves high fat but limited protein intake, so as to provide the body with ketones, an alternative energy source. Preclinical studies have indicated that ketone supplements may be of benefit in Pompe, but this has not been tested in a clinical trial.
Eating antioxidant-rich foods or taking antioxidant supplements also may potentially boost the effectiveness of Pompe disease therapies by preventing oxidative stress, a type of cellular stress implicated in disease mechanisms.
Patients also should be monitored for vitamin and nutrient deficiencies, with attention paid to the levels of vitamin D and vitamin B12. In some cases, nutritional supplements may be indicated.
Treatment plan
To live well with Pompe disease, patients need a comprehensive treatment plan, including goals for nutrition, exercise, and Pompe disease therapies.
The mainstay treatment for all types of Pompe disease is enzyme replacement therapy (ERT), which replaces the GAA enzyme that is missing or defective in patients as a consequence of GAA mutations. Some professionals believe that a healthy diet and exercise can help to maximize the benefits of ERT.
Exercise is another important component of Pompe disease care. For some patients, it may be recommended that they work with a physiotherapist to develop an exercise plan aimed at maintaining muscle mass and strengthening specific muscles.
A person’s healthcare team can help identify individual nutritional and treatment goals, and make recommendations that suit the patient’s health status and lifestyle. All patients should talk with their doctor to develop a well-rounded Pompe disease treatment plan that works best for their needs.
Additional ways to improve nutrition
Pompe patients experience progressive muscle weakness and low muscle tone, and for those with infantile-onset Pompe disease, which typically begins in the first few months of life, this can make it difficult to suckle or swallow. For LOPD patients, for whom symptoms typically begin later in life, it also may be difficult to chew or swallow, raising the risk of aspiration, or the inhalation of food into the lungs.
Weakness in the muscles that push food toward the stomach may cause food and stomach acid to move back up the esophagus, leading to heartburn and acid reflux. Moreover, weakened muscles in the chest and abdomen may make bowel movements more difficult, causing constipation or other gastrointestinal issues.
There are a number of strategies Pompe patients can try to minimize such problems and improve nutrition. These include:
- Eating several small meals throughout the day to make digestion easier.
- Chopping solid food up into smaller pieces or mashing and moistening it to facilitate swallowing.
- Thickening liquids with cornstarch, rice cereal, or thickening powders to aid swallowing.
- Sitting upright for an hour or two after eating and drinking to avoid heartburn and acid reflux.
- Eating plenty of fiber and staying-well hydrated to combat constipation.
Working with a professional dietician can help ensure Pompe disease patients consume a well-balanced diet that supports their overall health.
If patients are not able to eat enough by mouth, they may require a feeding tube to maintain adequate nutrition. These tubes, which may be inserted through the nose and down the throat (nasal tube) or through a surgical opening in the stomach wall (gastrostomy tube), bypass the need for swallowing.
Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
FAQs about Pompe disease and diet
Pompe disease can affect virtually all muscles in the body, including those needed to comfortably chew, swallow, and digest food. That means that patients may experience symptoms like heartburn or constipation as their body digests.
A particular amino acid, or protein building block, called alanine is important for breaking down sugar molecules in the body. Alanine supplements may help some Pompe patients, in whom a sugar molecule called glycogen abnormally builds up, although more studies are needed to confirm such therapeutic effects. Patients wishing to explore options for nutritional supplements should talk with their healthcare team.
There is no single diet that is established for Pompe disease, but some evidence suggests that a high-protein diet, in combination with appropriate exercise, can help reduce muscle weakness and boost the effectiveness of enzyme replacement therapy for some patients. Patients should always talk with their healthcare team before making a change in their diet or other components of their Pompe disease treatment plan.
Protein can be obtained from many different dietary sources, including meat, fish, eggs, and dairy. Plant-based sources of protein include beans, nuts, seeds, and certain vegetables, such as broccoli and leafy greens.
In Pompe disease, a sugar molecule called glycogen accumulates abnormally inside the body’s cells and impairs their function. This particularly affects muscles, leading to weakness and poor muscle tone. For some patients, the muscles needed for chewing and swallowing are affected, leading to difficulties with these actions.
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