Biotinidase deficiency

Definition

Vitamins are organic components in food that are needed in very small amounts for growth and for maintaining good health. The vitamins include vitamin D, vitamin E, vitamin A, and vitamin K, or the fat-soluble vitamins, and folate (folic acid), vitamin B₁₂, biotin, vitamin B₆, niacin, thiamin, riboflavin, pantothenic acid, and vitamin C (ascorbic acid), or the water-soluble vitamins. Vitamins are required in the diet in only tiny amounts, in contrast to the energy components of the diet. The energy components of the diet are sugars, starches, fats, and oils, and these occur in relatively large amounts in the diet.

Most of the vitamins are closely associated with a corresponding vitamin deficiency disease. Vitamin D deficiency causes rickets, a disease of the bones. Vitamin E deficiency occurs only very rarely, and causes nerve damage. Vitamin A deficiency is common throughout the poorer parts of the world, and causes night blindness. Severe vitamin A deficiency can result in xerophthalamia, a disease which, if left untreated, results in total blindness. Vitamin K deficiency results in spontaneous bleeding. Mild or moderate folate deficiency is common throughout the world, and can result from the failure to eat green, leafy vegetables or fruits and fruit juices. Folate deficiency causes megaloblastic anemia, which is characterized by the presence of large abnormal cells called megaloblasts in the circulating blood. The symptoms of megaloblastic anemia are tiredness and weakness. Vitamin B₁₂ deficiency occurs with the failure to consume meat, milk or other dairy products. Vitamin B₁₂ deficiency causes megaloblastic anemia and, if severe enough, can result in irreversible nerve damage. Niacin deficiency results in pellagra. Pellagra involves skin rashes and scabs, diarrhea, and mental depression. Thiamin deficiency results in beriberi, a disease resulting in atrophy, weakness of the legs, nerve damage, and heart failure. Vitamin C deficiency results in scurvy, a disease that involves bleeding. Specific diseases uniquely associated with deficiencies in vitamin B₆, riboflavin, or pantothenic acid have not been found in the humans, though persons who have been starving, or consuming poor diets for several months, might be expected to be deficient in most of the nutrients, including vitamin B₆, riboflavin, and pantothenic acid.

Some of the vitamins serve only one function in the body, while other vitamins serve a variety of unrelated functions. Hence, some vitamin deficiencies tend to result in one type of defect, while other deficiencies result in a variety of problems.

Purpose

People are treated with vitamins for three reasons. The primary reason is to relieve a vitamin deficiency, when one has been detected. Chemical tests suitable for the detection of all vitamin deficiencies are available. The diagnosis of vitamin deficiency is often aided by visual tests, such as the examination of blood cells with a microscope, the x ray examination of bones, or a visual examination of the eyes or skin.

A second reason for vitamin treatment is to prevent the development of an expected deficiency. Here, vitamins are administered even with no test for possible deficiency. One example is vitamin K treatment of newborn infants to prevent bleeding. Food supplementation is another form of vitamin treatment. The vitamin D added to foods serves the purpose of preventing the deficiency from occurring in persons who may not be exposed much to sunlight and who fail to consume foods that are fortified with vitamin D, such as milk. Niacin supplementation prevents pellagra, a disease that occurs in people who rely heavily on corn as the main source of food, and who do not eat much meat or milk. In general, the American food supply is fortified with niacin.

A third reason for vitamin treatment is to reduce the risk for diseases that may occur even when vitamin deficiency cannot be detected by chemical tests. One example is folate deficiency. The risk for cardiovascular disease can be slightly reduced for a large fraction of the population by folic acid supplements. And the risk for certain birth defects can be sharply reduced in certain women by folic acid supplements.

Vitamin treatment is important during specific diseases where the body's normal processing of a vitamin is impaired. In these cases, high doses of the needed vitamin can force the body to process or utilize it in the normal manner. One example is pernicious anemia, a disease that tends to occur in middle age or old age, and impairs the absorption of vitamin B₁₂. Surveys have revealed that about 0.1% of the general population, and 2-3% of the elderly, may have the disease. If left untreated, pernicous anemia leads to nervous system damage. The disease can easily be treated with large oral daily doses of vitamin B₁₂ (hydroxocobalamin) or with monthly injections of the vitamin.

Vitamin supplements are widely available as over-the-counter products. But whether they work to prevent or curtail certain illnesses, particularly in people with a balanced diet, is a matter of debate and ongoing research. For example, vitamin C is not proven to prevent the common cold. Yet, millions of people take it for that reason. Ask a physician or pharmacist for more information on the appropriate use of multivitamin supplements.

Precautions

Vitamin A and vitamin D can be toxic in high doses. Side effects range from dizziness to kidney failure. Ask a physician or pharmacist about the correct use of a multivitamin supplement that contains these vitamins.

Description

Vitamin treatment is usually done in three ways: by replacing a poor diet with one that supplies the recommended dietary allowance, by consuming oral supplements, or by injections. Injections are useful for persons with diseases that prevent absorption of fat-soluble vitamins. Oral vitamin supplements are especially useful for persons who otherwise cannot or will not consume food that is a good vitamin source, such as meat, milk or other dairy products. For example, a vegetarian who will not consume meat may be encouraged to consume oral supplements of vitamin B₁₂.

Treatment of genetic diseases which impair the absorption or utilization of specific vitamins may require megadoses of the vitamin throughout one's lifetime. Megadose means a level of about 10-1000 times greater than the RDA. Pernicious anemia, homocystinuria, and biotinidase deficiency are three examples of genetic diseases which are treated with megadoses of vitamins.

Preparation

The diagnosis of a vitamin deficiency usually involves a blood test. An overnight fast is usually recommended as preparation prior to withdrawal of the blood test so that vitamin-fortified foods do not affect the test results.

Aftercare

The response to vitamin treatment can be monitored by chemical tests, by an examination of red blood cells or white blood cells, or by physiological tests, depending on the exact vitamin deficiency.

Risks

Few risks are associated with vitamin treatment. Any possible risks depend on the vitamin and the reason why it was prescribed. Ask a physician or pharmacist about how and when to take vitamin supplements, particularly those that have not been prescribed by a physician.

Key Terms

Genetic disease

A genetic disease is a disease that is passed from one generation to the next, but does not necessarily appear in each generation. An example of genetic disease is Down's syndrome.

Plasma

Blood consists of red and white cells, as well as other components, that float in a liquid. This liquid is called plasma.

Recommended dietary allowance (RDA)

The Recommended Dietary Allowances (RDAs) are quantities of nutrients of the diet that are required to maintain human health. RDAs are established by the Food and Nutrition Board of the National Academy of Sciences and may be revised every few years. A separate RDA value exists for each nutrient. The RDA values refer to the amount of nutrient expected to maintain health in the greatest number of people.

Serum

Serum is blood plasma with the blood clotting proteins removed. Serum is prepared by removing blood from the subject, allowing the blood naturally to form a blood clot, and then using a centrifuge to remove the red blood cells and the blood clot. The blood clot takes the form of an indistinct clump.

Vitamin status

Vitamin status refers to the state of vitamin sufficiency or deficiency of any person. For example, a test may reveal that a patient's folate status is sufficient, borderline, or severely inadequate.

Further Reading

For Your Information

Books

• Brody, Tom. Nutritional Biochemistry. San Diego, CA: Academic Press, 1998.
• Combs, Gerald. The Vitamins. San Diego: Academic Press, 1992.
• Food and Nutrition Board. Recommended Dietary Allowances, 10th Edition. Washington, D.C.: National Academy Press, 1989.

Gale Encyclopedia of Medicine. Gale Research, 1999.