POMPE DISEASE

Overview and Facts

Pompe disease is a rare medical condition. This is a genetic and fatal disorder that paralyzes heart and skeletal muscles. Pompe disease is caused by mutations in the gene that produces an enzyme called acid alpha-glucosidase (GAA). Typically, the body uses GAA to impart glycogen.

An enzyme exerts its effect on cells, in compartments called lysosomes. Lysosomes are cellular clearinghouses that absorb multiple substances including glycogen. In Pompe disease, mutations lessen or completely terminate this essential enzyme.

Types and Symptoms

TYPES

Early-onset, or the infantile form. This is the result of complete GAA deficiency. Symptoms often start in the first month of birth.
Late-onset or adult-onset. This is the type that is usually found in adults

SYMPTOMS

There will be some issues in feeding, weight, muscles, and nerve or muscle functioning. Breathing difficulties often show complications in the lungs. The heart may have a massive enlargement. An enlarged tongue can also be seen in infants who have Pompe disease. A cardiac or a respiratory complication is the most common cause of death among babies before they celebrate their first birthday.

Diagnosis & Medications

DIAGNOSIS

Pompe Disease can be diagnosed by the following tests:

Enzymatic and molecular diagnosis
Routine laboratory tests
Muscle biopsy
Carrier testing, prenatal diagnosis, and genetic counseling

TREATMENT

People with Pompe disease are treated by a team of specialists. These specialists are familiar with the disease, and they offer medical care for this condition. Enzyme replacement therapy is being tested in clinical trials to lessen the size of the heart, maintain normal heart function, improve muscle functioning and reduce glycogen accumulation. A drug called alglucosidase alfa has been approved by the FDA for the treatment of infants and children with this disease.

POMPE DISEASE

Overview and Facts

Types and Symptoms

Diagnosis & Medications

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