Pompe disease is a rare metabolic disorder. It’s marked by a deficiency in lysosomal alpha-glucosidase. Your body needs this enzyme to break down stored glucose, which is called glycogen. When your body can’t break it down, glycogen accumulates in the muscles. This buildup makes it hard for muscles to function properly.

Symptoms of Pompe disease can show up in infancy or early adulthood. Pompe may also be referred to as acid maltase deficiency or glycogenosis type 2. The rate of progression varies from person to person.

The main symptom is profound muscle weakness. This weakness can be so severe that it interferes with mobility. In some cases, people with Pompe disease may have a hard time sitting up without assistance. The condition can also affect the respiratory system and the muscles used for chewing and swallowing.

There’s no cure for Pompe disease, but there are several treatments that may help with symptoms and overall quality of life.

Treatment consists of enzyme replacement therapy (ERT) and supportive therapies. Ensuring proper nutrition is also vitally important, especially for developing children.

Read on for some key information to know about Pompe disease and nutrition.

Making sure you get adequate nutrition is crucial. But diet alone is not enough. It must be part of a comprehensive treatment plan, which includes ERT.

Everyone is different. A diet that works for one person with Pompe disease may not help another. Your doctor can evaluate overall nutritional needs and deficiencies and make specific recommendations for:

  • diet and dietary supplements
  • exercise and physical therapy
  • other supportive therapies

Consult your doctor before making drastic changes to your diet or adding new dietary supplements.

Studies from 2020 and 2021 suggest that many adults with Pompe disease might benefit from a high protein, low carb diet when combined with aerobic exercise and ERT.

A high protein diet can also be beneficial to children, but it may not be right for everyone with Pompe disease.

One reason for eating more protein is the fact that foods high in protein can provide amino acids. When proteins are broken down during digestion, the byproduct is amino acids, which may slow down muscle breakdown.

A high protein diet can also help reduce the carbs a person consumes. Fewer carbs means cells have less sugar available to store in the form of glycogen.

In general, 10 to 35 percent of calories should come from protein. Anything over the top end of this range is considered a high protein diet. Of course, protein needs can change based on factors, such as age, sex, and level of physical activity.

You can get protein from plant and animal sources, such as:

  • fish and other seafood
  • poultry
  • lean unprocessed meats
  • eggs
  • seeds and nuts
  • lentils and beans
  • tofu
  • dairy products

Adding protein between meals

While you should always speak with your doctor before making any dietary changes, here are some simple ways to add protein between meals:

  • yogurt
  • milk, milkshake
  • cheese
  • almonds, peanuts, cashews, pecans
  • sunflower seeds, pumpkin seeds, flax seeds
  • hard-boiled or deviled eggs
  • peanut butter
  • bean dip, hummus

You can also add in some protein shakes, powders, or supplements. Again, you’ll want to check with your doctor before you try anything new.

The role of carbs

You need carbs in your diet, but not all carbs are the same. Carbs are made up of sugars, starches, and fiber. You can cut down on carbs by avoiding those that provide a lot of calories with little to no nutritional value. This includes foods made with highly processed white flour and added sugars, like fried potato chips and cookies.

Instead, choose healthier carbs in foods, such as:

  • whole grains, like cereals, whole grain breads, and pastas
  • whole fruit
  • beans

Research from 2019 showed lack of exercise and poor nutrition may accelerate disease progression in people with muscle disease. And when it comes to balancing, protein, nutrition, and exercise are independent and interactive factors.

According to a 2020 study, a high protein diet along with moderate intensity aerobic exercise improved the quality of life in people with late-onset Pompe disease.

Getting the right exercise with Pompe disease can be challenging. Consider speaking with your doctor about physical therapy. They may be able to prescribe physical therapy with specific instructions for the therapist.

Some children and adults with Pompe disease have trouble chewing and swallowing. This can increase the chances of inhaling food into the lungs.

And taking in too few calories can become a problem, especially for infants and children who are still developing. It can mean missing out on protein and important nutrients that help maintain muscle mass.

The same 2019 research mentioned above showed that inadequate food intake may further discourage physical activity and accelerate disease progression. It could also make you more vulnerable to other metabolic stressors.

Here are a few tips to make foods easier to chew and swallow:

  • Chop solid foods into manageable pieces.
  • Mash foods, or mix them with sauces or gravies.
  • Take small bites, and chew slowly and thoroughly.
  • Drink plenty of liquids.
  • Replace meals with nutritional drinks that contain added vitamins and minerals.

In some cases, the only way to get enough nutrients is with a feeding tube. Some feeding tubes go in through the nose, down the esophagus, and into the stomach. Some go directly into the stomach through a surgical opening in the abdomen.

Your doctor will let you know if this is necessary.

Your healthcare team may suggest working with a speech therapist who can help improve chewing and swallowing. You might also want to consider working with a dietician who’s familiar with Pompe disease.

Pompe disease is a genetic disorder that impacts the muscles.

Because protein is essential to muscle health, some people with Pompe disease can benefit from a high protein diet. If you or your child has Pompe disease, speak with your doctor about how to ensure proper nutrition.