How is Hartnup disease diagnosed?

How is Hartnup disease diagnosed?

If your doctor suspects you have Hartnup disease, they may order a urinalysis test. They will collect a sample of your urine to send to a laboratory to measure the amount of amino acids excreted through your urine. If there are high levels of “neutral” amino acids in your urine, it may be a sign of Hartnup disease.

Who discovered Hartnup disease?

[1] Hartnup disease was first described by Baron et al. in 1956 in a family in England in which four siblings were affected. [8] The condition was first described in a boy in Hartnup family who present with photosensitive rash, ataxia, hand tremors, and gait disturbances.

What is a Hartnup disease?

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.

Which amino acid is deficient in Hartnup disease?

Deficiency of the amino acid tryptophan is believed to account for the symptoms associated with Hartnup disease. Tryptophan is essential for the creation (synthesis) of nicotinamide, which is also supplemented through nutrition as a vitamin (also known as vitamin B3).

What is the cause of Hartnup disease?

Hartnup disease is caused by mutations in the SLC6A19 gene. This gene provides instructions for making a protein called B0AT1, which is primarily found embedded in the membrane of intestine and kidney cells. The function of this protein is to transport certain amino acids into cells.

How is Hartnup disease treated?

Treatment of Hartnup Disease

1. Protein and niacin in the diet.
2. Supplements of nicotinamide (niacinamide) or niacin (nicotinic acid)
3. For attacks, nicotinamide.
4. Avoiding sun exposure and sulfonamides.

Is Refsum disease genetic?

Refsum disease is an autosomal recessive genetic disorder.