Infantile Pompe Disease: General Information

Ian C. Langtree - Writer/Editor for Disabled World (DW)
Published: 2009/04/05 - Updated: 2023/02/01
Topic: Pediatric Disabilities - Publications List

Page Content: Synopsis - Introduction - Main

Synopsis: Pompe disease is a rare, inherited, often fatal disorder that disables the heart and muscles caused by mutations in a gene that makes an enzyme called alpha-glucosidase. Infantile form occurs within the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag.

Introduction

Pompe Disease alternate names: Acid Maltase Deficiency (AMD), Alpha-1,4 Glucosidase Deficiency, Cardiomegalia Glycogenica Diffusa, Generalized Glycogenosis (Cardiac), Glycogen Storage Disease type II, Glycogenosis type II, Lysosomal Glucosidase Deficiency.

Pompe disease is a rare (estimated at 1 in every 40,000 births) inherited and often fatal disorder that disables the heart and muscles. Mutations cause it in a gene that makes an enzyme called alpha-glucosidase (GAA).

The U.S. Social Security Administration (SSA) has included Pompe Disease - Infantile as a Compassionate Allowance to expedite a disability claim.

Focus

Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy. But in Pompe disease, mutations in the GAA gene reduce or eliminate this essential enzyme. Excessive amounts of glycogen accumulate everywhere in the body, but the heart and skeletal muscle cells are the most seriously affected.

Researchers have identified up to 70 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity. The severity of the disease and the age of onset are related to the degree of enzyme deficiency.

Infantile form occurs within the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag.

Respiratory difficulties are often complicated by lung infections. The heart is grossly enlarged. More than half of all infants with Pompe disease also have enlarged tongues.

A diagnosis of Pompe disease can be confirmed by screening for common genetic mutations or measuring the level of GAA enzyme activity in a blood sample. This test has 100 percent accuracy.

There is no cure for Pompe disease.

Treatment, therefore, serves only to help minimize the symptoms.

The clinical course is typically not affected by drugs used to treat respiratory or cardiac defects.

A high protein diet may be helpful and has significantly improved respiratory function in some cases.

An enzyme replacement therapy has been developed that has shown, in clinical trials with Infantile Pompe Disease, to decrease heart size, maintain normal heart function, improve muscle function, tone, and strength, and reduce glycogen accumulation.

A drug, alglucosidase alfa (Myozyme), has received FDA approval to treat Pompe disease.

Most babies with the Infantile form of Pompe disease die from cardiac or respiratory complications before their first birthday.

Without enzyme replacement therapy, babies' hearts progressively thicken and enlarge.

Author Credentials: Ian is an Australian-born writer, editor, and advocate who currently resides in Montreal, Canada. He is the founder and Editor-in-Chief of Disabled World, a leading resource for news and information on disability issues. With a global perspective shaped by years of travel and lived experience, Ian is a committed proponent of the Social Model of Disability-a transformative framework developed by disabled activists in the 1970s that emphasizes dismantling societal barriers rather than focusing solely on individual impairments. His work reflects a deep commitment to disability rights, accessibility, and social inclusion. To learn more about Ian's background, expertise, and accomplishments, visit his full biography.

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Citing and References

Founded in 2004, Disabled World (DW) is a leading resource on disabilities, assistive technologies, and accessibility, supporting the disability community. Learn more on our About Us page.

Cite This Page: Disabled World. (2009, April 5 - Last revised: 2023, February 1). Infantile Pompe Disease: General Information. Disabled World (DW). Retrieved May 18, 2025 from www.disabled-world.com/health/pediatric/pompe-disease.php

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