What is the Hartnup disease?

What is the Hartnup disease?

Description. Collapse Section. 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 is the main cause of Hartnup disorder?

Hartnup disease is caused by alterations (mutations) in the SLC6A19 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent.

How do you manage Hartnup disease?

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.

How is Hartnup disease diagnosed?

The diagnosis of Hartnup disease is by urine analysis showing neutral aminoaciduria except for proline. The neutral amino acids (valine, serine, phenylalanine, histidine, glutamine, leucine, asparagine, citrulline, isoleucine, threonine, alanine, tyrosine, tryptophan) undergo analysis by paper chromatography of urine.

What causes pellagra in Hartnup disease?

Hartnup disease (also known as “pellagra-like dermatosis” and “Hartnup disorder”) is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids (particularly tryptophan that can be, in turn, converted into serotonin, melatonin, and niacin).

Is Hartnup disease is fatal?

In most cases, people with Hartnup disease can live healthy lives. Complications of the condition are rare. But it’s possible to undergo changes in skin pigmentation, have trouble coordinating your physical movements, or develop psychiatric problems as a result of this condition.

Can aminoaciduria be treated?

Treatment:There is no known cure for aminoaciduria. Aminoaciduria is often treated with a restrictive diet, to minimize or eliminate exposure to a particular amino acid. Treatment options may include:Diet restrictions.

Why is Hartnup high-protein diet?

A high-protein diet can overcome the deficient transport of neutral amino acids in most patients. Poor nutrition leads to more frequent and more severe attacks of the disease, which is otherwise asymptomatic. Advise all patients who are symptomatic to use physical and chemical protection from sunlight.

What causes niacin deficiency?

A severe niacin deficiency leads to pellagra, a condition that causes a dark, sometimes scaly rash to develop on skin areas exposed to sunlight; bright redness of the tongue; and constipation/diarrhea. Other signs of severe niacin deficiency include: Depression. Headache.

Who was Hartnup named after?

Hartnup disease was named for the Hartnup family of England, who were featured in a 1956 study of the condition. Four out of eight family members were found to have excessive amounts of amino acids in their urine.

What are the causes of aminoaciduria?

In renal aminoaciduria, the renal tubules are unable to reabsorb the filtered amino acids back into the blood, causing high concentrations of amino acids in the urine….

How do you test for aminoaciduria?

Aminoaciduria is a test that screens for increased levels of amino acid excretion in the urine which may indicate inborn errors of metabolism caused by a specific enzyme deficiency. A clean-catch urine sample is performed by collecting the sample of urine in midstream.

What are the 4 P’s of niacin deficiency?

Pellagra is classically described as the 4 D’s in order of symptoms starting: diarrhea (watery, but may contain pus or blood), dermatitis, dementia, death. Three 3 P’s also apply: photosensitive, painful, pruritic. Pellagra is the clinical manifestation of Vitamin B3 (niacin) deficiency.

What are the functions of niacin?

Niacin is a B vitamin that’s made and used by your body to turn food into energy. It helps keep your nervous system, digestive system and skin healthy. Niacin (vitamin B-3) is often part of a daily multivitamin, but most people get enough niacin from the food they eat.

What can cause aminoaciduria?

This may be caused by congenital disorders of amino acid metabolism, for example, phenylketonuria, or may be secondary to liver disease. In renal aminoaciduria, the renal tubules are unable to reabsorb the filtered amino acids back into the blood, causing high concentrations of amino acids in the urine.

What is the chemical name of vitamin B3?

pyridine-3-carboxylic acidNiacin / IUPAC ID

What is the deficiency of niacin?

Niacin (vitamin B3) deficiency results in a condition known as pellagra. Pellagra includes the triad of dermatitis, dementia, and diarrhea and can result in death. Niacin deficiency can occur through genetic disorders, malabsorptive conditions, and interaction with certain medications.

What are sources of niacin?

A niacin deficiency is rare because it is found in many foods, both from animals and plants.

• Red meat: beef, beef liver, pork.
• Poultry.
• Fish.
• Brown rice.
• Fortified cereals and breads.
• Nuts, seeds.
• Legumes.
• Bananas.

What causes B3 deficiency?

How many types of vitamin B3 are there?

Vitamin B3 comes in two common forms: Nicotinamide (the active form) and Nicotinic Acid. Niacin is vital for energy release in tissues and cells.