Infantile Pompe Disease: General Information

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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.

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.

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