Hartnup Syndrome

(Hartnup Disease)

The Hartnup syndrome is a rare disease in which the absorption and excretion of tryptophan and other amino acids is disrupted. Symptoms include rash, CNS disorders, short stature, headaches and collapse or fainting spells. The diagnosis is made by the high excretion of tryptophan and other amino acids in the urine. Preventive can niacinamide or niacin, specify when seizures nicotinamide.

The Hartnup syndrome is caused by a mutation in the sodium-dependent neutral amino acid transporter gene that shows up in epithelial cells of the kidney and intestine. The syndrome is inherited as an autosomal recessive trait.

The Hartnup syndrome is a rare disease in which the absorption and excretion of tryptophan and other amino acids is disrupted. Symptoms include rash, CNS disorders, short stature, headaches and collapse or fainting spells. The diagnosis is made by the high excretion of tryptophan and other amino acids in the urine. Preventive can niacinamide or niacin, specify when seizures nicotinamide. The Hartnup syndrome is caused by a mutation in the sodium-dependent neutral amino acid transporter gene that shows up in epithelial cells of the kidney and intestine. The syndrome is inherited as an autosomal recessive trait. There is a malabsorption of tryptophan, phenylalanine, methionine and other Monoaminomonocarboxyaminosäuren in the small intestine. The accumulation of unabsorbed amino acids in the gastrointestinal tract increases the metabolism of the bacterial flora. Some tryptophan breakdown products such as indole, kynurenine and serotonin are absorbed from the intestine and excreted in the urine. Renal adsorption of amino acids is also disturbed and causes a general aminoaciduria that affects all amino acids except proline and hydroxyproline. In addition, the conversion of tryptophan is disturbed to niacinamide. Symptoms and signs Although the disease is already present at birth, symptoms of Crohn Hartnup manifest sometimes only in infancy, in childhood or adolescence. The symptoms can be enhanced by exposure to the sun, by fever, medications or other noxious substances. Malnutrition is the clinical symptoms almost always preceded. The clinical features are the result of Niacinamidmangels and similar to those of pellagra, especially the eruption on the sun-exposed body parts. Symptoms of the mucous membranes and neurological abnormalities may also occur. Neurological manifestations are the cerebellar ataxia and mental disorders, mental retardation, short stature, headaches, and of collapse and fainting. Diagnostic urine tests for amino acids The diagnosis of Crohn’s Hartnup can be made by detecting the characteristic amino acid excretion in the urine. The presence of indoles or other tryptophan breakdown products in the urine provides additional evidence of the disease. Treatment niacin or niacinamide supplements nicotinamide in seizures, the prognosis is good, and the attacks are in the course of advancing age less. The number and severity of attacks can by a good diet and by the addition of niacin or niacinamide (50-100 mg po three times daily) are lowered. Acute attacks are with nicotinamide 20 mg / day p.o. treated.

Health Life Media Team

Leave a Reply