Feeding Tubes for Pompe Disease

Eating and drinking or nursing can pose a problem for patients with Pompe disease. These patients may require feeding tubes to ensure safety and proper nutrition. Here is some information about feeding problems in Pompe disease and options for different feeding tubes.

What is Pompe disease?

Pompe disease is a rare genetic disease caused by mutations in the GAA gene. This gene contains the instructions necessary for cells to make an enzyme called acid alpha-glucosidase. This enzyme breaks down a complex sugar molecule called glycogen. The body stores glycogen mainly in the muscles and liver as a major source of energy. When it needs energy, it breaks down glycogen into glucose, which it uses to power cellular metabolism.

Mutations in the GAA gene lead to a lack or reduction in the production of acid alpha-glucosidase, impairing the cells’ ability to break down glycogen. This causes it to build up and reduce the availability of energy. The buildup of glycogen in cells causes damage primarily to the muscles and liver, leading to the symptoms of Pompe disease. The severity of the mutation often leads to three different types of Pompe disease: classic infantile-onset, non-classic infantile-onset, and late-onset Pompe disease.

How does Pompe disease cause feeding problems?

Patients with Pompe disease may experience feeding problems at some point.

Children with infantile forms of the disease often experience difficulties with feeding. These difficulties stem from several factors related to Pompe disease, including weak face and mouth muscles, and a weak and enlarged tongue, which can make it hard for these infants to nurse. Heart problems can also lead to being out of breath and can interfere with eating.

In patients with late-onset Pompe disease, progressive muscle weakness can interfere with swallowing. The muscles of the jaw that are necessary for chewing can also tire easily, resulting in a reduction in intake.

Difficulty in swallowing can pose a risk of aspiration or inhaling bits of food and drink into the lungs. This can lead to dangerous lung infections. To reduce the risk of aspiration and ensure adequate nutrition, many patients may need feeding tubes.

What are the types of feeding tubes?

The two main types of feeding tubes are nasogastric (NG) and gastrostomy tubes (G-tubes). NG feeding tubes run through the nose and down into the stomach. G-tubes involve surgery to install the feeding tube line through the abdomen directly into the stomach.

Each form of feeding tube has benefits and risks. NG tubes are often used for shorter periods of time and are easier to insert and remove, but they can cause irritation in the throat and airways. G-tubes are more common as they are typically more secure and discrete than NG tubes.

There are other options of feeding tubes for patients whose bodies don’t tolerate feeding directly into the stomach such as those with gastroesophageal reflux, where the contents of the stomach sometimes flow back into the esophagus. These options are similar to NG or G-tubes but extend into the duodenum or jejunum (parts of the small intestine).

Nasoduodenal tubes pass through the nose and go to the first part of the small intestine called the duodenum, and nasojejunal tubes extend farther into the second part, called the jejunum.

Gastrojejunal tubes are similar to G-tubes and enter the abdomen into the stomach but then continue into the jejunum. Finally, jejunal tubes are surgically placed through the abdomen directly into the small intestines. These are not commonly used in children.

Last updated: Oct. 27, 2020

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