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Pompe's disease

Glycogen storage disease type II (also called Pompe disease or infantile acid maltase deficiency) is a rare genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase (GAA), which is needed to break down glycogen, a stored form of sugar used for energy. It is the only glycogen storage disease with a defect in lysosomal metabolism, and was the first glycogen storage disease to be identified—in 1932. The build-up of glycogen causes progressive muscle weakness throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver and nervous system. Transmission is by autosomal recessive inheritance. more...

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Children have a 1 in 4 chance of inheriting the disease when both parents carry the abnormal gene. It is estimated to occur in about 1 in 40,000 births.

Variants

Pompe disease has three forms defined by age of onset and progression of symptoms:

Infantile, or early onset, is noticed shortly after birth. Symptoms include severe lack of muscle tone, weakness, and enlarged liver and heart. Mental function is not affected. Development appears normal for the first weeks or months but slowly declines as the disease progresses. Swallowing may become difficult and the tongue may protrude and become enlarged. Most children die from respiratory or cardiac complications before 2 years of age.

Juvenile onset symptoms appear in early to late childhood and include progressive weakness of respiratory muscles in the trunk, diaphragm and lower limbs, as well as exercise intolerance. Intelligence is normal. Most patients do not live beyond the second or third decade of life.

Adult onset symptoms also involve generalized muscle weakness and wasting of respiratory muscles in the trunk, lower limbs, and diaphragm. Many patients report respiratory distress, headache at night or upon waking, diminished deep tendon reflexes, and proximal muscle weakness, such as difficulty in climbing stairs. Intellect is not affected. A small number of adult patients live without major symptoms or limitations

Treatment

Cardiac and respiratory complications are treated symptomatically. Physical and occupational therapy may be beneficial for some patients. Alterations in diet may provide temporary improvement but will not alter the course of the disease. Genetic counseling can provide families with information regarding risk in future pregnancies.

Prognosis

The prognosis for individuals with Pompe disease varies according to the onset and severity of symptoms. The disease is particularly lethal in infants and young children.

Read more at Wikipedia.org


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Milked enzyme thwarts muscle disorder - Pompe's disease - Brief Article
From Science News, 11/4/00 by

A controversy over rabbit's milk and hamster ovaries provides background drama to a successful attempt to use a human enzyme to treat the rare genetic disorder Pompe's disease.

This fatal condition weakens the body's muscles, particularly the heart and the muscles that power breathing. While people with milder forms of the condition live into their teens and adulthood, babies born with the severest form of Pompe's disease rarely survive their first year.

The illness stems from genetic mutations depriving the body of an enzyme, alpha-glucosidase, that degrades a complex sugar, glycogen, into a simpler one, glucose. A buildup of glycogen ultimately causes the muscles to fail.

For more than a decade, Ans van der Ploeg of Sophia Children's Hospital and Arnold Reuser of Erasmus University, both in Rotterdam, have pursued the idea of replacing the missing enzyme. By using rabbits genetically altered to produce human alpha-glucosidase in their milk, the researchers were finally able to test this strategy.

In one recent trial, four infants with Pompe's disease received weekly infusions of the enzyme collected from rabbit milk. The treatment dramatically reduced the amount of glycogen in the infant's muscle cells. The babies' skeletal muscles became stronger, and their hearts didn't enlarge--as they usually do in Pompe's disease to compensate for the weakening.

"We've seen babies sitting and standing, milestones not normally achieved in babies with Pompe's disease," says van der Ploeg, who calls the treatment "life saving."

She expresses concern, however, over a plan by the firms sponsoring her trial--Genzyme of Cambridge, Mass., and Pharming of Leiden, the Netherlands--to switch production of the enzyme into hamster ovary cells. The investigator contends the shift could threaten the supply of the enzyme for her patients.

Genzyme officials counter that it's easier and cheaper to produce the enzyme in hamster cells and that a research team at Duke University has already used alpha-glucosidase made this way to treat several infants with Pompe's disease.

COPYRIGHT 2000 Science Service, Inc.
COPYRIGHT 2000 Gale Group

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