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Hartnup Disease

By

Christopher J. LaRosa

, MD, Perelman School of Medicine at The University of Pennsylvania

Last full review/revision Dec 2020| Content last modified Dec 2020
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Hartnup disease is a rare hereditary disorder that results in a rash and brain abnormalities because tryptophan and certain other amino acids are not well absorbed from the intestine and not well reabsorbed by the kidneys, so the body has inadequate amounts of these substances.

In Hartnup disease, the transport of amino acids (the building blocks of proteins) in the intestine and kidneys is disordered. Hartnup disease occurs when a person inherits two copies of the abnormal gene for the disorder, one from each parent (see Figure: Non–X-Linked (Autosomal) Recessive Disorders Non–X-Linked (Autosomal) Recessive Disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more ). The defective gene controls the absorption of certain amino acids from the intestine and the reabsorption of those amino acids in the kidneys. Consequently, a person with Hartnup disease cannot absorb amino acids properly from the intestine and cannot reabsorb them properly from tubules in the kidneys.

Viewing the Urinary Tract

Organs of the Urinary Tract

Symptoms of Hartnup Disease

The intestines and kidneys function normally, aside from the problem transporting amino acids, and the effects of the disease occur mainly in the brain and skin. Although the disorder is present at birth, symptoms of Hartnup disease may begin in infancy or childhood, but sometimes they begin as late as early adulthood. Symptoms may be triggered by sunlight, fever, drugs, or emotional or physical stress.

A period of poor nutrition nearly always precedes an attack. Most symptoms occur sporadically and are caused by a deficiency of niacin. The symptoms resemble those caused by a dietary deficiency of niacin (pellagra Niacin Deficiency Niacin deficiency (causing pellagra) is uncommon in developed countries. Many people with niacin deficiency also have deficiencies of protein, riboflavin (a B vitamin), and vitamin B6. A distinctive... read more Niacin Deficiency ), particularly the rash that develops on parts of the body exposed to the sun. Intellectual disability, short stature, headaches, an unsteady gait, and collapsing or fainting are common. Psychologic problems (such as anxiety, rapid mood changes, delusions, and hallucinations) may also result.

Diagnosis of Hartnup Disease

  • Urine tests

Laboratory tests done on urine samples reveal an abnormally high excretion of amino acids and their by-products (such as serotonin).

Prognosis of Hartnup Disease

The prognosis for Hartnup disease is good, and the attacks usually become progressively less frequent with age.

Treatment of Hartnup Disease

  • Protein and niacin in the diet

  • Supplements of nicotinamide (niacinamide) or niacin (nicotinic acid)

  • For attacks, nicotinamide

  • Avoiding sun exposure and sulfonamides

People with Hartnup disease can reduce the number and severity of attacks by maintaining good nutrition and eating enough protein and supplementing their diet with niacinamide or niacin Niacin Deficiency Niacin deficiency (causing pellagra) is uncommon in developed countries. Many people with niacin deficiency also have deficiencies of protein, riboflavin (a B vitamin), and vitamin B6. A distinctive... read more Niacin Deficiency (a B-complex vitamin very similar to niacinamide).

People may take nicotinamide to treat attacks.

People who have Hartnup disease also should avoid sun exposure as well as antibiotics that contain sulfonamides.

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Preventive Health Care Visits in Infants
Frequent doctor visits are recommended for all infants younger than 1 year of age. These visits, also called well-child visits, make it possible to check development, look for health problems, provide age-appropriate vaccinations, and educate parents. Which of the following is a condition that might affect some infants born very prematurely, with less than 32 weeks of development in the uterus?
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