What is Hartnup syndrome?

Hartnup disease is a condition caused by the body’s inability to absorb certain protein building blocks (amino acids) from the diet. As a result, affected individuals are not able to use these amino acids to produce other substances, such as vitamins and proteins.

What are the symptoms of Hartnup disease?

skin rash.
anxiety.
rapid mood swings.
delusions.
hallucinations.
intention tremor.
speech difficulties.
unsteady wide-based gait, in which you walk with your legs farther apart than normal.

How is Hartnup disease diagnosed?

Molecular genetic testing can confirm a diagnosis of Hartnup disease in some cases. Molecular genetic testing can detect genetic alterations in the SLC19A6 gene known to cause the disorder, but usually is not necessary to obtain a diagnosis.

How is Hartnup disease treated?

Treatment of Hartnup Disease 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 (a B-complex vitamin very similar to niacinamide). People may take nicotinamide to treat attacks.

What caused pellagra?

Pellagra is caused by having too little niacin or tryptophan in the diet. It can also occur if the body fails to absorb these nutrients. Pellagra may also develop due to: Gastrointestinal diseases.

How do you treat Hartnup disease?

How will you treat pellagra like symptoms?

Primary pellagra is treated with dietary changes and a niacin or nicotinamide supplement. It may also need to be given intravenously. Nicotinamide is another form of vitamin B-3. With early treatment, many people make a full recovery and start feeling better within a few days of starting treatment.

What is the treatment for Hartnup disease?

What is the cure for pellagra?

Where is pellagra most commonly found?

Pellagra is common in poor parts of the world, such as Africa and India, where corn (or maize) is a staple food. This is because corn is a poor source of tryptophan and niacin. In the United States, pellagra was prevalent in the early 1900’s in the South where corn played a large role in the diet.

When is pellagra caused?

What are signs of pellagra?

Symptoms of pellagra include:

Delusions or mental confusion.
Diarrhea.
Weakness.
Loss of appetite.
Pain in abdomen.
Inflamed mucous membrane.
Scaly skin sores, especially in sun-exposed areas of the skin.

What do you need to know about Hartnup disease?

Summary Summary. Hartnup disease is a metabolic disorder characterized by abnormal transport of certain amino acids in the kidney and gastrointestinal system. It is a type of aminoaciduria. The condition may be diagnosed based on the results of newborn screening tests. Most people with the condition have no symptoms (asymptomatic).

How is Hartnup disease related to low nicotinamide?

Pellagra, a similar condition, is also caused by low nicotinamide; this disorder results in dermatitis, diarrhea, and dementia . Hartnup disease is a disorder of amino acid transport in the intestine and kidneys; otherwise, the intestine and kidneys function normally, and the effects of the disease occur mainly in the brain and skin.

What happens to tryptophan in Hartnup disease?

As a result, an excessive amount of amino acids exits your body through urination. This leaves your body with an insufficient amount of these amino acids. Among other amino acids, Hartnup disease affects your ability to absorb tryptophan. This is an important building block for proteins and vitamins.

What are the mutations in the Hartnup gene?

Hartnup disease is caused by mutations in the SLC6A19 gene and is inherited in an autosomal recessive manner.[1][2] People with Hartnup disease may benefit from a high-protein diet, protection from sunlight, vitamin supplementation, and avoidance of certain drugs/medications.