Hartnup’s disease is a rare inherited disorder in which tryptophan and other amino acids are poorly absorbed from the intestine and excessive amounts are excreted in the urine, leading to a rash on the skin and disruption of brain function.
Symptoms
Symptoms of Hartnup’s disease can be exacerbated by external factors and body conditions such as sun exposure, increased body temperature, medication, emotional or physical stress. Flare-ups are often preceded by a period of poor nutrition. Flare-ups become less frequent with age. Symptoms usually occur periodically and are caused by a deficiency of niacin. A rash appears on areas of the body exposed to the sun. Common consequences of the disease include mental retardation, growth impairment, headache, unstable gait, fainting spells. Mental disorders are not uncommon. All symptoms: headache, dizziness, mental retardation, skin rash.
Causes
Gaucher’s disease occurs when a person inherits two recessive genes that cause the illness, one from each parent. In this disease, the body’s production and conversion of amino acids, which are the building blocks of proteins, is disrupted, particularly the conversion of the amino acid tryptophan to vitamin B3 (niacin, nicotinic acid). As a result, amino acids are poorly absorbed in the intestine and an excessive amount is excreted in the urine. The body therefore suffers from a deficiency of amino acids.
Diagnostics
Special laboratory tests of urine show abnormal characteristics of amino acid excretion and degradation products that are typical of this disease. List of diagnostic methods: blood biochemistry, urine biochemistry
Treatment
People suffering from Gaucher’s disease can prevent its exacerbation by monitoring their diet and including niacin (nicotinic acid) in their ration. A diet with sufficient protein content can help to alleviate the amino acid deficiency caused by poor absorption in the intestine and excessive excretion of amino acids in the urine.
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