Hartnup disease

Definition

Pellagra is a disorder brought on by a deficiency of the nutrient called niacin or nicotinic acid, one of the B-complex vitamins.

Description

Nicotinic acid plays a crucial role in the cellular process called "respiration." Respiration is the process by which nutrients (specifically sugar, or glucose) and oxygen are taken in, chemical reactions take place, energy is produced and stored, and carbon monoxide and wastes are given off. This process is absolutely central to basic cell functioning, and thus the functioning of the body as a whole.

Niacin is a B vitamin which is found in such foods as yeast, liver, meat, fish, whole-grain cereals and breads, and legumes. Niacin can also be produced within the body from the essential amino acid called tryptophan. Dietary requirements for niacin depend on the age, gender, size, and activity level of the individual. Niacin requirements range from 5 mg in infants up to 20 mg in certain adults.

Causes & symptoms

Pellagra can be either primary or secondary. Primary pellagra results when the diet is extremely deficient in niacin-rich foods. A classic example occurs in geographic locations where Indian corn (maize) is the dietary staple. Maize does contain niacin, but in a form which cannot be absorbed from the intestine (except when it has been treated with alkali, as happens in the preparation of tortillas). People who rely on maize as their major food source often suffer from pellagra. Pellagra can also occur when a hospitalized patient, unable to eat for a very prolonged period of time, is given fluids devoid of vitamins through a needle in the vein (intravenous or IV fluids).

Secondary pellagra occurs when adequate quantities of niacin are present in the diet, but other diseases or conditions interfere with its absorption and/or processing. This is seen in various diseases which cause prolonged diarrhea, with cirrhosis of the liver and alcoholism, with long-term use of the anti-tuberculosis drug called isoniazid, in patients with malignant carcinoid tumor, and in patients suffering from Hartnup disease (an inherited disorder which results in disordered absorption of amino acids from the intestine and kidney).

Pellagra causes a variety of symptoms, affecting the skin; mucous membranes (moist linings of the mouth, organs, etc.); central nervous system (including the brain and nerves); and the gastrointestinal system. The classic collection of symptoms includes redness and swelling of the mouth and tongue, diarrhea, skin rash, and abnormal mental functioning, including memory loss. While early patients may simply have a light skin rash, over time the skin becomes increasingly thickened, pigmented, and may slough off in places. Areas of the skin may become prone to bacterial infection. The mouth and tongue, and sometimes the vagina, become increasingly thick, swollen, and red. Abdominal pain and bloating occur, with nausea and vomiting, and bloody diarrhea to follow. Initial mental changes appear as inability to sleep (insomnia), fatigue, and a sense of disconnectedness (apathy). These mental changes progress to memory loss, confusion, depression, and hallucinations (in which the individual sees sights or hears sounds which do not really exist). The most severe states include stiffness of the arms and legs, with resistance to attempts to move the limbs; variations in level of consciousness; and the development of involuntary sucking and grasping motions. This collection of symptoms is called "encephalopathic syndrome."

Diagnosis

Diagnosis is purely based on the patient's collection of symptoms, together with information regarding the patient's diet. When this information points to niacin deficiency, replacement is started, and the diagnosis is then partly made by evaluating the patient's response to increased amounts of niacin. There are no chemical tests available to definitively diagnose pellagra.

Treatment

Treatment of pellagra usually involves supplementing the individual's diet with a form of niacin called niacinamide (niacin itself in pure supplementation form causes a number of unpleasant side effects, including sensations of itching, burning, and flushing). The niacinamide can be given by mouth (orally) or by injection (when diarrhea would interfere with its absorption). The usual oral dosage is 300-500 mg each day; the usual dosage of an injection is 100-250 mg, administered two to three times each day. When pellagra has progressed to the point of the encephalopathic syndrome, a patient will require 1000 mg of niacinamide orally, and 100-250 mg of niacinamide by injection. Once the symptoms of pellagra have subsided, a maintenance dose of niacin can be calculated, along with attempting (where possible) to make appropriate changes in the diet. Because many B-complex vitamin deficiencies occur simultaneously, patients will usually require the administration of other B-complex vitamins as well.

Prognosis

Untreated pellagra will continue progressing over the course of several years, ultimately leading to death. Often, death is due to complications from infections, massive malnutrition brought on by continuous diarrhea, blood loss due to bleeding from the gastrointestinal tract, or severe encephalopathic syndrome.

Prevention

Prevention of pellagra is completely possible; what is required is either a diet adequate in niacin-rich foods, or appropriate supplementation. However, in many geographic locations in the world such foods are unavailable to the general population, and pellagra becomes an unavoidable complication of poverty.

Key Terms

Niacinamide

A form of niacin, which is usually used as a dietary supplement for people with insufficient niacin.

Respiration

Respiration is the process by which nutrients (specifically sugar, or glucose) and oxygen are taken in to a cell; chemical reactions take place; energy is produced and stored; and carbon monoxide and wastes are given off.

Further Reading

For Your Information

Books

• Beal, M. Flint, and Joseph B. Martin. "Pellagra." In Harrison's Principles of Internal Medicine, edited by Anthony S. Fauci, et al. New York: McGraw-Hill, 1998.
• Duyff, Roberta Larson. The American Dietetic Association's Complete Food and Nutrition Guide. Chicago: Chronimed, 1996.
• Wilson, Jean D. "Deficiency States." In Harrison's Principles of Internal Medicine, edited by Anthony S. Fauci, et al. New York: McGraw-Hill, 1998.

  Organizations

• American Dietetic Association, 216 W. Jackson Blvd., Chicago, IL 60606-6995, (800) 745-0775 or (312) 899-0040, ext. 5000. http://www.eatright.org/cdr.html.

Gale Encyclopedia of Medicine. Gale Research, 1999.