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Acid maltase deficiency

Glycogen storage disease type II (also called Pompe disease or 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. more...

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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. 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.

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Yes, you can prevent heartburn
From Better Nutrition, 2/1/99 by Denise Mann

Simple, natural ways to stop it before it stops you.

A burning sensation in the heart is great if it's love, but it's not so great if it's caused by acid reflux, a backflow of stomach contents upward into the esophagus. Heartburn discomfort starts behind the breast bone, rises to the chest, and may extend to the neck, throat, or face.

A new poll found that about one in seven American adults experiences heartburn three or more times a week, and 5 percent of people polled said they experienced heartburn every day. Watching what we eat -- and don't eat -- along with other lifestyle modifications may be all it takes to nip heartburn in the bud.

"Heartburn is not normal and certainly it is something that is easily controlled by making wise food choices," says Ronni Chernoff, Ph.D., R.D., former president of the American Dietetic Association, and professor of nutrition and dietetics at the University of Arkansas for Medical Science in Little Rock. "It is still possible to enjoy a varied and healthful diet while avoiding foods that trigger heartburn," she explains.

The causes

If you suffer from heartburn, stay away from spicy foods, alcoholic beverages, chocolate, coffee, tea, cola, fried and fatty foods, citrus fruits and juices, tomatoes, and all types of mints. Smoking and being overweight also contribute to heartburn.

Some simple cures

Instead of chocolates, try hard candies or gum drops. And, instead of an orange or grapefruit, try a baked apple, Chernoff recommends.

It's also important to avoid overeating. Try eating smaller meals throughout the day, she notes. Lying down right after eating is a known heartburn trigger, so don't lie down for at least three hours after a meal. Importantly, however, if you experience heartburn more than twice a week, talk to your doctor about it.

Heartburn may be a sign of a more serious condition called gastro-esophageal reflux disease (GERD).

Supplements may help reduce heartburn, too

Some preliminary studies suggest that the natural enzymes pancreatic, pancrelipase, pepsin, bromelain (found in pineapple cores), lipase, amylase, sucrase, lactase, and maltase may help ensure a balanced acid environment in the stomach and intestines, which, in turn, limits the acid reflux that causes heartburn. By encouraging proper digestion of foods, these enzymes reduce stomach stress, relieve discomfort from overeating, and help prevent some of the side effects of improper digestion, including heartburn. Talk with your health-care provider about which digestion-aiding supplements may be right for you.

Timothy J. Smith, M.D., the medical director of the Center for Anti-aging Medicine of Northern California, located in Sebastopol, Calif., recommends plant-based digestive enzymes, including amylacea and lipase, for the treatment of some cases of heartburn. Acidophilus is another natural remedy to try if you have digestive problems and/or heartburn. In addition, many older people who have digestive problems suffer from a hydrochloric acid (HCL) deficiency. These people may benefit from supplements of betaine-HCL, says Smith, who is also the author of Renewal: The Anti-aging Revolution (Rodale Press, 1998).

Peptic ulcers, or sores or holes in the lining of the stomach or small intestine, are also common stomach disorders. New evidence suggests that nine of 10 ulcers are caused by infection with the bacterium known as Helicobacter pylori. This spiral-shaped bacterium lives in or on the stomach lining. "Heartburn and ulcers are two things on the same continuum," Smith says. "Very often, chronic low level heartburn is caused by H. pylori infection -- even if tests for this bacteria come back negative."

Ulcers themselves are helped by gamma-oryzanol (from rice bran oil), glutamine, pantethine, vitamin E, cat's claw, licorice, vitamin A, zinc, Lactobacillus acidophilus, vitamin B-6, and DMSO (dimethyl sulfoxide).

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