Acid maltase deficiency

Definition

Carbohydrate intolerance is the inability of the body to completely process the nutrient carbohydrate (a classification that includes sugars and starches) into a source of energy for the body, usually because of the deficiency of an enzyme needed for digestion. Lactose intolerance, the inability to digest the sugar found in milk, is widespread and affects up to 70% of the world's adult population.

Description

Carbohydrates are the primary source of energy and, along with fats and proteins, one of the three major nutrients in the human diet. Carbohydrates are classified according to their structure based on the number of basic sugar, or saccharide units they contain.

A monosaccharide is the simplest carbohydrate and called a simple sugar. Simple sugars include glucose (the form in which sugar circulates in the blood), fructose (found in fruit and honey), and galactose (produced by the digestion of milk). These simple sugars are important because they can be absorbed by the small intestine. Two simple sugars linked together make a disaccharide. The disaccharide sugars present in the diet are maltose (a product of the digestion of starch), sucrose (table sugar), and lactose (the sugar in milk). These disaccharides must be broken down by enzymes into two simple sugars so that they can be absorbed by the intestine. Polysaccharides are much more complex carbohydrates made up of many simple sugars, the most important of which are glycogen, which is stored in the liver, and starch.

Digestion of sugars

Digestion of food begins in the mouth, moves on to the stomach, and then into the small intestine. Along the way, specific enzymes are needed to process different types of sugars. An enzyme is a substance that acts as a catalyst to produce chemical changes without being changed itself. The enzymes lactase, maltase, and isomaltase (or sucrase) are needed to break down the disaccharides; when one or more is inadequate, the result is carbohydrate intolerance.

Types of intolerance

Carbohydrate intolerance can be primary or secondary. Primary deficiency is caused by an enzyme defect present at birth or developed over time. The most common is lactose intolerance. Secondary deficiencies are caused by a disease or disorder of the intestinal tract, and disappear when the disease is treated. These include protein deficiency, celiac disease, and some intestinal infections.

Adult lactose intolerance is the most common of all enzyme deficiencies, and it is estimated that 30-50 million Americans have this condition. Some racial and ethnic populations are affected more than others. Lactose intolerance is found in as many as 75% of African Americans, Jewish Americans, Mexican Americans, and Native Americans, and in 90% of Asian Americans. Descendants of Northern Europeans and some Mediterranean peoples usually do not develop the condition. Deficiencies in enzymes other than lactase are extremely rare.

Causes & symptoms

Enzymes play an important role in breaking down carbohydrates into forms that can pass through the intestine and be used by the body. Usually they are named by adding ase to the name of the substance they act on, so lactase is the enzyme needed to process lactose. Cooked starch is broken down in the mouth to a disaccharide by amylase, an enzyme in the saliva. The disaccharides maltose, sucrose, and lactose cannot be absorbed until they have been separated into simple sugar molecules by their corresponding enzymes present in the cells lining the intestinal tract. If this process is not completed, digestion is interrupted.

Although not common, a deficiency in the enzymes needed to digest lactose, maltose, and sucrose is sometimes present at birth. Intestinal lactase enzymes usually decrease naturally with age, but this happens to varying degrees. Because of the uneven distribution of enzyme deficiency based on race and ethnic heritage, especially in lactose intolerance, genetics are believed to play a role in the cause of primary carbohydrate intolerance.

Digestive diseases such as celiac disease and tropical sprue (which affect absorption in the intestine), as well as intestinal infections and injuries, can reduce the amount of enzymes produced. In cancer patients, treatment with radiation therapy or chemotherapy may affect the cells in the intestine that normally secrete lactase, leading to intolerance.

The severity of the symptoms depends on the extent of the enzyme deficiency, and range from a feeling of mild bloating to severe diarrhea. In the case of a lactase deficiency, undigested milk sugar remains in the intestine, which is then fermented by the bacteria normally present in the intestine. These bacteria produce gas, cramping, bloating, a "gurgly" feeling in the abdomen, and flatulence. In a growing child, the main symptoms are diarrhea and a failure to gain weight. In an individual with lactase deficiency, gastrointestinal distress begins about 30 minutes to two hours after eating or drinking foods containing lactose. Food intolerances can be confused with food allergies, since the symptoms of nausea, cramps, bloating, and diarrhea are similar.

Sugars that aren't broken down into one of the simplest forms cause the body to push fluid into the intestines, which results in watery diarrhea (osmotic diarrhea). Diarrhea may sweep other nutrients out of the intestine before they can be absorbed, causing malnutrition.

Diagnosis

Carbohydrate intolerance can be diagnosed using oral tolerance tests. The carbohydrate being investigated is given by mouth in liquid form and several blood levels are measured and compared to normal values. This helps evaluate the individual's ability to digest the sugar.

To identify lactose intolerance in children and adults, the hydrogen breath test is used to measure the amount of hydrogen in the breath. The patient drinks a beverage containing lactose and the breath is analyzed at regular intervals. If undigested lactose in the large intestine (colon) is fermented by bacteria, various gases are produced. Hydrogen is absorbed from the intestines and carried by the bloodstream into the lungs where it is exhaled. Normally there is very little hydrogen detectable in the breath, so its presence indicates faulty digestion of lactose.

When lactose intolerance is suspected in infants and young children, many pediatricians recommend simply changing from cow's milk to soy formula and watching for improvement. If needed, a stool sample can be tested for acidity. The inadequate digestion of lactose will result in an increase of acid in the waste matter excreted by the bowels and the presence of glucose.

Treatment

Carbohydrate intolerance caused by temporary intestinal diseases disappears when the condition is successfully treated. In primary conditions, no treatment exists to improve on the body's ability to produce the enzymes, but symptoms can be controlled by diet.

Because the degree of lactose intolerance varies so much, treatment should be tailored for the individual. Young children showing signs of intolerance should avoid milk products; infants should switch to soy-based formula. Older children and adults can adjust their intake of lactose depending on how much and what they can tolerate. For some, a small glass of milk will not cause problems, while others may be able to handle ice cream or aged cheeses such as cheddar or Swiss, but not other dairy products. Generally, small amounts of lactose-containing foods taken throughout the day are better tolerated than a large amount consumed all at once.

For those individuals who are sensitive to even very small amounts of lactose, the lactase enzyme is available without a prescription. It comes in liquid form for use with milk. The addition of a few drops to a quart of milk will reduce the lactose content by 70% after 24 hours in the refrigerator. Heating the milk speeds up the process, and doubling the amount of lactase liquid will result in milk that is 90% lactose free. Chewable lactase enzyme tablets are also available. Three to six tablets taken before a meal or snack will aid in the digestion of solid foods. Lactose-reduced milk and other products are also available in stores. The milk contains the same nutrients as regular milk.

Because dairy products are an important source of calcium, people who reduce or severely limit their intake of dairy products may need to consider other ways to consume an adequate amount of calcium in their diets.

Prognosis

With good dietary management, individuals with carbohydrate intolerance can lead normal lives.

Prevention

Since the cause of the enzyme deficiency leading to carbohydrate intolerance is unknown, there is no way to prevent this condition.

Key Terms

Celiac disease

A disease, occurring in both children and adults, which is caused by a sensitivity to gluten, a protein found in grains. It results in chronic inflammation and shrinkage of the lining of the small intestine.

Digestion

The mechanical, chemical, and enzymatic process in which food is converted into the materials suitable for use by the body.

Enzyme

A substance produced by the body to assist in a chemical reaction. In carbohydrate intolerance, lack of an enzyme makes it impossible for one type of sugar to be broken down into a simpler form so that it can be absorbed by the intestines and used by the body.

Metabolism

All the physical and chemical changes that take place within an organism.

Nutrient

Food or another substance that supplies the body with the elements needed for metabolism.

Sugars

Those carbohydrates having the general composition of one part carbon, two parts hydrogen, and one part oxygen.

Further Reading

For Your Information

Books

• Macdonald, Ian. "Carbohydrates." In Modern Nutrition in Health and Disease, edited by Maurice E. Shils, et al. Philadelphia: Lea & Febiger, 1994.
• Williams, Sue Rodwell. Essentials of Nutrition and Diet Therapy. Philadelphia: Mosby, 1997.

  Periodicals

• "If You Think You Can't Stomach Milk..." Tufts University Diet & Nutrition Letter, 13 (September 1995): 7.
• "Lactose Intolerance." Mayo Clinic Health Newsletter, 15 (February 1997): 7.
• "Most Frequently Asked Questions About Lactose Intolerance." Nutrition Today, (March/April 1996): 78-79.

  Other

• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDKD). Lactose Intolerance. 1998. http://www.niddk.nih.gov/health/digest/pubs/lactose/lactose.htm.

Gale Encyclopedia of Medicine. Gale Research, 1999.