Hartnup's disease
Contents:
Description:
Hartnup's disease is the rare disease connected with an abnormal reabsorption and excretion of tryptophane and other amino acids. Symptoms of a disease of Hartnup include rash, disturbances of TsNS, low growth, headaches, and also faints and collapses. The diagnosis is based on determination of high content in urine of tryptophane and other amino acids. Preventive treatment includes Niacinum or Niacinamidum, and at the attacks appoint niacinamide.
Tryptophane metabolism
Hartnup etiologies:
Hartnup's disease is inherited on autosomal recessively type. Reduced absorption in a small intestine of tryptophane, phenylalanine, methionine and other monoamino monocarboxylic amino acids develops. Accumulation of not soaked up amino acids in a GIT increases their metabolization a bacterial flora. Some products of degradation of tryptophane, including indoles, kynurenine and serotonin, are soaked up in intestines and appear in urine. Also the renal reabsorption of amino acids is broken that causes a generalized aminoaciduria, including all neutral amino acids, except for proline and hydroxyproline. Also transformation of tryptophane into Niacinamidum is broken.
Symptoms of a disease of Hartnup:
Practically always emergence of symptoms is preceded by low intake of nutrients. Symptoms of a disease of Hartnup develop owing to deficit of Niacinamidum and remind manifestations of a pellagra, especially rash on open body parts. Neurologic manifestations include a cerebellar ataxy and mental disturbances. The delay of intellectual development, low growth, headaches, kollaptoidny states, faints are often noted. In spite of the fact that the disease is present since the birth, symptoms can appear at chest age, at children's age or at young adults. Emergence of symptoms can be provoked by insolation, some medicines or other stresses.
Diagnosis:
The diagnosis is based on detection of characteristic disturbances of excretion of amino acids with urine. Indoles and other products of degradation of tryptophane in urine are the additional evidence of existence of a disease of Hartnup.
Treatment of a disease of Hartnup:
Hartnup's disease has the favorable forecast, the frequency of the attacks usually decreases with age. Attacks can be prevented, supporting the good nutritive status and supplementing a diet with Niacinum or Niacinamidum, on 50-100 mg in 3 times a day. The developed attack treat niacinamide, on 20 mg inside once a day.
