Pompe Disease | Symptoms & Causes
What are the symptoms of Pompe disease?
There are two types of Pompe disease: infantile Pompe disease and late-onset Pompe disease.
Symptoms of infantile Pompe disease appear during infancy. Infantile Pompe disease is further categorized as either classic or non-classic. When a child has infantile Pompe disease, symptoms appear shortly after birth. With non-classic infantile Pompe disease, symptoms appear later but generally within the first year of life.
Symptoms may include:
- Muscle weakness (myopathy)
- Poor muscle tone (hypotonia)
- Enlarged liver (hepatomegaly)
- Heart defects
- Poor growth and poor weight gain (failure to thrive)
- Respiratory difficulties
If left untreated, classic infantile Pompe disease can lead to heart failure within the first year of life.
Symptoms of late-onset Pompe disease appear later in life, generally in late childhood, adolescence, or even adulthood.
Symptoms may include:
- Progressive muscle weakness (myopathy)
- Muscle cramping
- Extreme fatigue
- Gait abnormality
- Mobility difficulties
- Respiratory difficulties
What causes Pompe disease?
Pompe disease is caused by a mutation in the GAA gene, which leads to a deficiency in a specific protein — an enzyme called acid maltase. Mutations in the GAA gene keep acid maltase from properly breaking down complex sugars within the body’s cells. Pompe disease is caused by an accumulation of these sugars and other molecules in the body’s organs and tissues, particularly in muscles. This genetic condition is inherited in an autosomal recessive pattern, which means that an affected child has received one defective copy of the GAA gene from each of their parents.
Pompe Disease | Diagnosis & Treatments
How do we treat late-onset Pompe disease?
Current approaches to all types of Pompe disease are tailored to specific patients and may include enzyme replacement therapy (ERT), and additional supportive therapies that target specific symptoms and complications of the disease. Treatment plans require interdisciplinary collaboration and depend greatly on a patient’s specific disease presentation.
How we care for late-onset Pompe disease
At the Boston Children’s Lysosomal Storage Disorders (BoLD) Program, our team of providers is committed to the care of complex patients. As part of Boston Children’s Hospital, we are prepared to meet the challenge of providing multifaceted care by partnering with you and your child to deliver direct care in our BoLD clinic. We work with the broad array of world-class specialists at Boston Children’s to optimize the care we provide your child with Pompe disease.
