Hartnup's disease is a rare and hereditary disorder characterized by the production of skin rashes and brain changes.
This disorder affects the way the body processes amino acids and people with this disease are unable to absorb some amino acids at the level of the intestine and also do not correctly convert tryptophan, and as a consequence excrete them in excessive amounts in the urine, producing very characteristic symptoms because certain amino acids remain in the body in much smaller quantities than those considered normal.
Hartnup's disease occurs when an individual inherits two recessive genes for the disorder, one from the father and one from the mother.
Symptoms of Hartnup syndrome
Symptoms of Hartnup's disease can be triggered by sunlight, fever, medication and even emotional or physical stress and is characterized by a rash on areas of the body exposed to the sun.
Symptoms that are usually present in patients with Hartnup disease:
- mental retardation, short stature, headaches, unsteady gait, falls, fainting and some psychological disorder.
A period of malnutrition almost always precedes an episode of skin rashes, which become progressively less frequent with age.
Most symptoms occur sporadically and they are caused by niacinamide deficiency.
To correctly determine Hartnup's disease, it is necessary to simply perform a urine test, which when positive for the presence of the disorder reveals a typical pattern of excretion of amino acids and their metabolic products.
Treatment
Prevention of crises and symptoms typical of Hartnup's disease can be done by maintaining good nutrition and dietary supplementation with niacinamide or niacin, since a diet with an adequate amount of protein can overcome the deficiency caused by gastrointestinal malabsorption. and by the excessive excretion of amino acids in the urine.
