Hartnup disease

Hartnup disease

      inborn metabolic disorder involving the amino acid tryptophan. Normally, one of the metabolic pathways of tryptophan leads to the synthesis of nicotinic acid, or niacin, a vitamin of the B group, a deficiency of which causes pellagra. In Hartnup disease, it is believed that the transport system in the kidney tubule that normally reabsorbs tryptophan into the body circulation is defective. As a result, the concentration of tryptophan increases in the urine and decreases in the blood, and there is less tryptophan available for the synthesis of niacin.

      Clinical features of Hartnup disease include episodic scaly red rashes over exposed areas of the body, identical in appearance with those of classical pellagra; thought processes and behaviour may also be abnormal. In addition to defective kidney transport, there also seems to be a delayed and incomplete absorption of dietary tryptophan through the intestinal tract. The pellagra-like symptoms can be controlled with supplementary doses of the amide of niacin (nicotinamide); affected persons generally respond well to a high-protein diet.

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Universalium. 2010.

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  • Hartnup disease — Hartnup disease. См. болезнь Хартнупа. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Hartnup disease — Hart·nup disease härt .nəp n an inherited metabolic disease that is caused by abnormalities of the renal tubules and is characterized esp. by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular… …   Medical dictionary

  • Hartnup disease — Infobox Disease Name = PAGENAME Caption = Tryptophan DiseasesDB = 5638 ICD10 = ICD10|E|72|0|e|70 ICD9 = ICD9|270.0 ICDO = OMIM = 234500 MedlinePlus = eMedicineSubj = derm eMedicineTopic = 713 MeshID = D006250 Hartnup disease, or Hartnup disorder …   Wikipedia

  • Hartnup disease — a rare hereditary defect in the absorption of the amino acid tryptophan, leading to mental retardation, thickening and roughening of the skin on exposure to light, and lack of muscular coordination. The condition is similar to pellagra. Treatment …   The new mediacal dictionary

  • Hartnup disease — Amino acid transport defect that leads to excessive loss of monoamino monocarboxylic acids (cystine, lysine, ornithine, arginine) in the urine, and poor absorption in the gut. See iminoglycinuria …   Dictionary of molecular biology

  • Hartnup-Krankheit — Klassifikation nach ICD 10 E72.0 Störungen des Aminosäuretransportes …   Deutsch Wikipedia

  • Hartnup-Syndrom — Klassifikation nach ICD 10 E72.0 Störungen des Aminosäuretransportes …   Deutsch Wikipedia

  • Болезнь Хартнапа (Hartnup Disease) — редкий наследственный дефект, связанный с нарушением всасывания аминокислоты триптофана; в результате чего у человека наблюдается задержка умственного развития, утолщение и шершавость кожи, подвергающейся воздействию солнечного света, а также… …   Медицинские термины

  • Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… …   Medical dictionary

  • Hartnup — Surname of British family in which the disease was first described. See H. disease, H. syndrome …   Medical dictionary

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