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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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Enzyme therapy
From Gale Encyclopedia of Alternative Medicine, 4/6/01 by Mary McNulty

Definition

Enyzme therapy is a plan of dietary supplements of plant and animal enzymes used to facilitate the digestive process and improve the body's ability to maintain balanced metabolism.

Origins

Enzymes are protein molecules used by the body to perform all of its chemical actions and reactions. The body manufactures several thousands of enzymes. Among them are the digestive enzymes produced by the stomach, pancreas, small intestine, and the salivary glands of the mouth. Their energy-producing properties are responsible for not only the digestion of nutrients, but their absorption, transportation, metabolization, and elimination as well.

Enzyme therapy is based on the work of Dr. Edward Howell in the 1920s and 1930s. Howell proposed that enzymes from foods work in the stomach to pre-digest food. He advocated the consumption of large amounts of plant enzymes, theorizing that if the body had to use less of its own enzymes for digestion, it could store them for maintaining metabolic harmony. Four categories of plant enzymes are helpful in pre-digestion: protease, amylase, lipase, and cellulase. Cellulase is particularly helpful because the body is unable to produce it.

Animal enzymes, such as pepsin extracted from the stomach of pigs, work more effectively in the duodenum. They are typically used for the treatment of nondigestive ailments.

The seven categories of food enzymes and their activities

  • Amylase: breaks down starches.
  • Cellulase: breaks down fibers.
  • Lactase: breaks down dairy products.
  • Lipase: breaks down fats.
  • Maltase: breaks down grains.
  • Protease: breaks down proteins.
  • Sucrase: breaks down sugars.

Enzyme theory generated further interest as the human diet became more dependent on processed and cooked foods. Enzymes are extremely sensitive to heat, and temperatures above 118°F (48°C) destroy them. Modern processes of pasteurization, canning, and microwaving are particularly harmful to the enzymes in food.

Benefits

In traditional medicine, enzyme supplements are often prescribed for patients suffering from disorders that affect the digestive process, such as cystic fibrosis, Gaucher's disease, and celiac disease . A program of enzyme supplementation is rarely recommended for healthy patients. However, proponents of enzyme therapy believe that such a program is beneficial for everyone. They point to enzymes' ability to purify the blood, strengthen the immune system, enhance mental capacity, cleanse the colon, and maintain proper pH balance in urine. They feel that by improving the digestive process, the body is better able to combat infection and disease.

Some evidence exists that pancreatic enzymes derived from animal sources are helpful in cancer treatment. The enzymes may be able to dissolve the coating on cancer cells and may make it easier for the immune system to attack the cancer.

A partial list of the wide variety of complaints and illnesses that can be treated by enzyme therapy includes:

  • AIDS
  • anemia
  • alcohol consumption
  • anxiety
  • acute inflammation
  • back pain
  • cancer
  • colds
  • chronic fatigue syndrome
  • colitis
  • constipation
  • diarrhea
  • food allergies
  • gastritis
  • gastric duodenal ulcer
  • gout
  • headaches
  • hepatitis
  • hypoglycemia
  • infections
  • mucous congestion
  • multiple sclerosis
  • nervous disorders
  • nutritional disorders
  • obesity
  • premenstrual syndrome (PMS)
  • stress

Description

Enzyme supplements are extracted from plants like pineapple and papaya and from the organs of cows and pigs. The supplements are typically given in tablet or capsule form. Pancreatic enzymes may also be given by injection. The dosage varies with the condition being treated. For nondigestive ailments, the supplements are taken in the hour before meals so that they can be quickly absorbed into the blood. For digestive ailments, the supplements are taken immediately before meals accompanied by a large glass of fluids. Pancreatic enzymes may be accompanied by doses of vitamin A .

Preparations

No special preparations are necessary before beginning enzyme therapy. However, it is always advisable to talk to a doctor or pharmacist before purchasing enzymes and beginning therapy.

Precautions

People with allergies to beef, pork, pineapples, and papaya may suffer allergic reactions to enzyme supplements. Tablets are often coated to prevent them from breaking down in the stomach, and usually shouldn't be chewed or crushed. People who have difficulty swallowing pills can request enzyme supplements in capsule form. The capsules can then be opened and the contents sprinkled onto soft foods like applesauce.

Side effects

Side effects associated with enzyme therapy include heartburn, nausea and vomiting, diarrhea, bloating, gas, and acne. According to the principles of therapy, these are temporary cleansing symptoms. Drinking eight to ten glasses of water daily and getting regular exercise can reduce the discomfort of these side effects. Individuals may also experience an increase in bowel movements, perhaps one or two per day. This is also considered a positive effect.

Plant enzymes are safe for pregnant women, although they should always check with a doctor before using enzymes. Pregnant women should avoid animal enzymes. In rare cases, extremely high doses of enzymes can result in a build up of uric acid in the blood or urine and can cause a break down of proteins.

Research & general acceptance

In the United States, the Food and Drug Administration (FDA) has classified enzymes as a food. Therefore, they can be purchased without a prescription. However, insurance coverage is usually dependent upon the therapy resulting from a doctor's orders.

Training & certification

There is no specific training or certification required for practicing enzyme therapy.

Key Terms

Celiac disease
A chronic disease characterized by defective digestion and use of fats.
Cystic fibrosis
A genetic disease that causes multiple digestive, excretion, and respiratory complications. Among the effects, the pancreas fails to provide secretions needed for the digestion of food.
Duodenum
The first part of the small intestine.
Gaucher's disease
A rare genetic disease caused by a deficiency of enzymes needed for the processing of fatty acids.
Metabolism
The system of chemical processes necessary for living cells to remain healthy.

Further Reading

For Your Information

Books

  • Cassileth, Barrie R. The Alternative Medicine Handbook. New York: W.W. Norton, 1998.

Other

  • Enzyme Therapy for Your Health. http://members.tripod.com/~colloid/enzyme.htm.
  • Questions and Answers about Food Enzymes and Nutrition. http://www.enzymes.com/.
  • Therapies: Enzyme Therapy. http://library.thinkquest.org/24206/enzyme-therapy.html.

Gale Encyclopedia of Alternative Medicine. Gale Group, 2001.

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