Pompe disease is a rare, inherited condition in which the body cannot break down glycogen, a stored form of sugar, inside its cells. The glycogen builds up and damages muscle, especially the heart and the muscles used for movement and breathing. Early detection through newborn screening allows treatment to begin before serious damage occurs.
What causes Pompe disease
Pompe disease is caused by variants in the GAA gene, which provides instructions for an enzyme called acid alpha-glucosidase. This enzyme breaks down glycogen inside cell structures called lysosomes, so Pompe is known as a lysosomal storage disorder. It is inherited in an autosomal recessive pattern. The most severe, infantile-onset form appears in the first months of life, while later-onset forms progress more slowly.
How newborn screening detects it
Newborn screening measures acid alpha-glucosidase enzyme activity in the blood spot from the heel prick. A low result prompts confirmatory enzyme testing and GAA gene analysis. Screening matters because the infantile form can progress quickly, and treatment works best when it starts early.
How Pompe disease is treated
The main treatment is enzyme replacement therapy, which supplies the missing enzyme through regular infusions. For infantile-onset Pompe, starting therapy as early as possible protects the heart and muscles and greatly improves outcomes. Care is coordinated by a metabolic specialist and may include supportive therapies for breathing and movement.
How genetic screening fits in
State newborn screening does an excellent job of catching Pompe disease. Genetic screening looks at the same picture from the DNA level and, in a single test, can also assess the genes tied to more than 1,000 other clinically actionable childhood conditions, many of which are not on any state panel. Fore Genomics offers an at-home cheek-swab screen, sequenced in CLIA-certified and CAP-accredited labs, with results supported by board-certified genetic counselors. See what we screen for or start screening.
Frequently asked questions
Is Pompe disease on newborn screening panels?
Yes. Pompe disease is on the federal Recommended Uniform Screening Panel and is screened for by a growing number of states.
Why does early treatment matter so much?
The infantile form can damage the heart and muscles quickly, so starting enzyme replacement therapy early helps prevent that damage.
Is it inherited?
Yes. Pompe disease is autosomal recessive, so a child inherits a GAA variant from each parent.
Related guides
- Newborn Screening Guide (all conditions and states)
- MCAD Deficiency
- Maple Syrup Urine Disease (MSUD)
Medically reviewed by Fore's Clinical Team. This article is for general educational purposes and is not medical advice. Sources: HRSA Newborn Screening; National Organization for Rare Disorders (NORD).