Pompe disease is a genetic condition in which a complex sugar called glycogen builds up in the lysosomes of your body’s cells. The disease occurs when you lack a specific digestive enzyme …

Jan 18, 2024 · Pompe disease is a rare disease continuum with variable rates of disease progression and different ages of onset. First symptoms can occur at any age from birth to late …

Find information about newborn screening for Pompe disease, including causes, signs, symptoms, and treatment.

Pompe disease tend to begin after the first year, but these can develop a late as adulthood. Typically, this form of Pompe disease does not involve heart enlargement. In general, the e

INTRODUCTION POMPE DISEASE (GLYCOGEN STORAGE DISEASE, TYPE II; ACID MALTASE DEFICIENCY) a rare, progressive, metabolic disorder. At that time, her parents …

Developed with the expertise of Barbara K. Burton, MD, Northwestern University Feinberg School of Medicine, Ann & Robert H. Lurie Children’s Hospital of Chicago, Illinois.

Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially …

The muscle weakness in this disorder leads to serious breathing problems and most children with non-classic infantile-onset Pompe Disease live only into early childhood.

Pompe disease is a rare genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), leading to an abnormal accumulation of glycogen in various tissues of the …

Pompe disease is caused by a genetic mutation that causes a buildup of complex sugars in the body’s tissues. This buildup makes it difficult for children with the disease to function normally.