What Is Pompe Disease? – Symptoms, Causes, And Treatment

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Written by , MSc Shaheen Naser MSc Experience: 3 years
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Pompe disease affects between 1 in every 40,000 and 1 in 300,000 live births globally (1). It is a genetic disorder and is usually passed on by one’s parents. However, your parents don’t necessarily have to be affected to pass the disease on to you as they may just be carriers.

One may not even know that they have been suffering from Pompe disease until they have been diagnosed with it. Muscle weakness that causes difficulty in mobility, breathing difficulties, fatigue, and headaches are among the common symptoms associated with this disorder. In infants, Pompe disease can also lead to heart failure and consequent death if not treated early. However, you can never tell unless a medical diagnosis is made.

Keep reading to find more about this hereditary disorder and how it can be diagnosed and treated.

Table Of Contents

What Is Pompe Disease?

Pompe disease is an inherited disorder that leads to the accumulation of a complex sugar called glycogen in the lysosomal cells of the body. This accumulation or build-up is due to the deficiency of the lysosomal acid alpha-glucosidase enzyme. Pompe disease is also referred to as type II glycogen storage disease and GAA deficiency. Glycogen mostly tends to accumulate in certain organs and tissues. Pompe disease usually affects the heart, liver, and muscles (2).

Curious to know what causes this hereditary disorder? Let’s find out.

What Causes Pompe Disease?

Pompe disease is an autosomal recessive metabolic disorder. This means that an individual has to inherit two mutated (flawed) genes, one from each parent, to develop this disorder. In some cases, an individual may only carry one defective gene and, thus, will be asymptomatic. However, such individuals will be carriers of the disease (3).

The symptoms that surface with Pompe disease may vary from one individual to another.

Signs And Symptoms

Infants who are one-year-old or younger usually suffer from early-onset or infantile Pompe disease. The symptoms exhibited by them may include (3):

  • Difficulty in eating and gaining weight
  • Poor control of head and neck
  • Rolling over and/or sitting later than expected
  • Breathing difficulties
  • Lung infections
  • Heart defects such as enlarged or thickening heart
  • Enlarged tongue
  • Enlarged liver (hepatomegaly)

Those who develop this disease at an older age, say 60 years, suffer from late-onset Pompe disease. The symptoms exhibited by such individuals are:

  • Weakness in the legs, trunks, and arms
  • Difficulty in breathing
  • Lung infections
  • Spine curvature
  • Enlarged liver
  • Joint stiffness
  • Enlarged tongue that can make chewing and swallowing difficult

Adults suffering from Pompe disease usually do not exhibit any cardiac defects.

Since the symptoms of Pompe disease are similar to many other health conditions, your doctor may carry out a few other diagnostic tests to confirm your condition.

How To Diagnose Pompe Disease

Your doctor may begin by asking some basic questions about your health and symptoms – like whether you have trouble with your legs or lungs. You may be also asked if anybody else in your family exhibits similar symptoms.

Depending on your symptoms, your doctor may ask you to take any of the following tests to confirm your condition:

  • Test a muscle sample to check the levels of glycogen
  • Blood test to check the functionality of the acid alpha-glucosidase enzyme
  • Genetic testing to look for the faulty genes

Once you have been diagnosed with Pompe disease, your doctor may prescribe the required treatments.

How To Treat Pompe Disease

Early treatment is the best way to prevent the disease from causing any further damage to the body, especially in infants.

Doctors usually prescribe two medications to replace the missing protein in the body. Enzyme replacement therapy (ERT) can help in processing glycogen correctly and prevent its build-up (4).

The enzymes used for this therapy are:

  • Myozyme (for children and babies)
  • Lumizyme

Gene therapy is another upcoming treatment option for various genetic disorders. However, it is still on trial – but with successful results. Affected individuals can also seek solace in support groups.

Pompe disease can be managed well when compared to several other disorders that may have severe consequences on your health. However, always remember that early treatment is key to prevent this hereditary disorder from turning lethal.

Was this post helpful? Do you have any more issues to address? Ask us in the comments section below.

Frequently Asked Questions

What are the types of Pompe disease?

There are mainly three types of Pompe disease, namely, classic infantile-onset Pompe disease, non-classic infantile-onset Pompe disease, and late-onset Pompe disease. The classic type usually occurs within the first few months of birth, whereas, the non-classic type appears within the first year of an infant’s life. The late-onset Pompe disease can surface during late childhood, adolescence, or even adulthood.

How long can you live with Pompe disease?

If left untreated, Pompe disease can turn out be quite fatal and also cause death within 1 year in infants. The life expectancy of children suffering from juvenile Pompe disease is 30 years or younger.

What is the average life expectancy for a child with Pompe disease?

The life expectancy for a child suffering from classic infantile Pompe disease is 2 years or lesser, whereas, for children suffering from the non-classic type, the life expectancy is early childhood.


  1. Recent Developments, Utilization, and Spending Trends for Pompe Disease Therapies” American Health and Drug Benefits, US National Library of Medicine.
  2. Pompe disease: from pathophysiology to therapy and back again” Frontiers in Aging Neuroscience, US National Library of Medicine.
  3. Pompe Disease” GeneReviews, US National Library of Medicine.
  4. Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy” Journal of Clinical Neuromuscular Disease, US National Library of Medicine.
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Joel Kahn
Joel Kahn, MD is a practicing cardiologist with 39 years of experience and a Clinical Professor of Medicine at Wayne State University School of Medicine. He graduated Summa Cum Laude from the University of Michigan Medical School and trained in interventional cardiology in Dallas and Kansas City.

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