Hartnup disease: causes, symptoms and diagnosis

What is Hartnup's disease?

Hartnup's disease is also known as Hartnup's disorder. It is a hereditary metabolic disorder. It makes it difficult for your body to absorb certain amino acids from your intestine and reabsorb them from your kidneys. Amino acids are essential building blocks to create proteins in your body.

Hartnup's disease was named after the Hartnup family of England, which appeared in a 1956 study of the disease. It was found that four of the eight members of the family had excessive amounts of amino acids in the urine. They also had skin rashes and a lack of coordination of their voluntary muscle movements, known as ataxia. These are the signs and symptoms characteristic of Hartnup's disease, which usually affect the skin and brain.

The National Organization for Rare Disorders reports that it is estimated that Hartnup's disease affects approximately one in 30,000 people in the United States. Symptoms usually begin to appear in childhood or in the first years of life. The symptoms last approximately two weeks when there is an "attack". The frequency of these attacks decreases with age.

What are the symptoms of Hartnup's disease?

Your brain and skin stay healthy and function properly if you get the necessary amount of vitamin B complex. If you have Hartnup's disease, you can not absorb certain amino acids properly. This hinders your body's ability to make proteins and produce vitamin B complex. It can trigger specific mental and physical symptoms, which include:

  • acne

  • anxiety

  • quick mood swings

  • delusions

  • hallucinations

  • trembling of intentions

  • difficulties to speak

  • unstable, broad-based walk, in which you walk with your legs more separated than usual

  • abnormalities in muscle tone, in which the muscles become more tense or lose their tone

  • short stature

  • sensitivity to light

A rash called "pellagra" is a common symptom. It usually results from exposure to sunlight. It is an intermittent red and scaly rash that usually appears on your face, neck, hands and legs. Initially it is red, but over time it can progress to a rash similar to eczematous. With prolonged exposure to the sun, changes in skin pigmentation can become permanent.

Sunlight, poor nutrition, sulfonamide medications, or emotional or physical stress can trigger symptoms.

Although symptoms usually begin to appear in childhood or early childhood, they can also appear in early adulthood. Acute attacks of symptoms usually become less frequent as you get older.

What causes Hartnup's disease?

Hartnup's disease is caused by a mutation of the gene that controls the absorption and reabsorption of amino acids from your body. It is an autosomal recessive trait. That means that people born with the condition have inherited a mutated gene from both parents. Scientists are not sure why the mutation occurs.

In most people, your body absorbs specific amino acids in your intestines and then reabsorbs them in your kidneys. If you have Hartnup's disease, you can not properly absorb certain amino acids from your small intestine. Nor can it reabsorb them from the kidneys. As a result, an excessive amount of amino acids leaves your body through urination. This leaves your body with an insufficient amount of these amino acids.

Among other amino acids, Hartnup's disease affects its ability to absorb tryptophan. This is an important building block for proteins and vitamins. Without enough tryptophan, your body can not make enough niacin. A niacin deficiency can cause you to develop a sun-sensitive rash. It can also lead to dementia.

Howis Hartnup disease diagnosed?

If your doctor suspects that you have Hartnup's disease, you may be ordered a urinalysis test. They will collect a sample of your urine and send it to a laboratory to measure the amount of amino acids that are excreted through your urine. If there are high levels of "neutral" amino acids in your urine, it can be a sign of Hartnup's disease.

This test alone is not enough to diagnose Hartnup's disease. Your doctor will also check your personal and family medical history. They will ask you about your symptoms, how often you have them and when they started. They can also order a blood test to check their levels of vitamin B complex, including niacin.

How is Hartnup's disease treated?

If you are diagnosed with Hartnup's disease, your doctor may advise you to change your diet, avoid sunlight, and avoid medicines that contain sulfonamide.

Dietary changes

Since people with Hartnup's disease can not produce enough niacin, eating foods that contain niacin can significantly reduce their symptoms. Good sources of niacin include:

  • Red meat

  • poultry

  • fish

  • peanut butter

  • fortified grains

  • whole grains

  • potatoes

Red meats, poultry, fish and peanuts are also excellent sources of protein. Choose lean cuts of red meat and skinless poultry. The fat and skin of meat and poultry are rich sources of saturated fats. Eating too much saturated fat can increase your risk of high cholesterol.


Your doctor may also suggest that you take a vitamin B complex or niacin supplements, such as nicathonic acid. Your recommended dose of supplementation will depend on the severity of your niacin deficiency.

Avoid the sun

Your doctor may also recommend that you avoid direct exposure to the sun. For example, they may encourage you to wear sunscreen and protective clothing.

What is the long-term perspective for Hartnup's disease?

In most cases, people with Hartnup's disease can lead a healthy life. Complications of the condition are rare. But it is possible to undergo changes in the pigmentation of the skin, have problems to coordinate their physical movements or develop psychiatric problems as a result of this condition. In rare cases, you can develop diseases of your nervous system.

Nervous system conditions can be life threatening, but in most cases, your doctor can treat them effectively. Ask your doctor for strategies to control your condition and decrease the risk of complications.

Reference: https: //www.healthline.com/health/hartnup-disorder


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