Hartnup disease

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, [OMIM|234500] is an autosomal recessivecite journal |pmid=15286787 |year=2004 |month=Sep |author=Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave MH, Wagner CA, Camargo SR, Inoue S, Matsuura N, Helip-Wooley A, Bockenhauer D, Warth R, Bernardini I, Visser G, Eggermann T, Lee P, Chairoungdua A, Jutabha P, Babu E, Nilwarangkoon S, Anzai N, Kanai Y, Verrey F, Gahl WA, Koizumi A |title=Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder |volume=36 |issue=9 |pages=999-1002 |doi=10.1038/ng1405 |journal=Nature genetics] metabolic disorder affecting the absorption of neutral amino acids (particularly tryptophan that can be, in turn, converted into Serotonin, Melatonin and Niacin). Niacin is a precursor to nicotinamide, a necessary component of NAD+.

The causative gene, SLC6A19, is located on chromosome 5.cite journal |pmid=15286788 |doi=10.1038/ng1406 |year=2004 |month=Sep |author=Seow HF, Bröer S, Bröer A, Bailey CG, Potter SJ, Cavanaugh JA, Rasko JE |title=Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19 |volume=36 |issue=9 |pages=1003-1007 |journal=Nature genetics]

ymptoms

Hartnup disease manifest during infancy with variable clinical presentation: failure to thrive, photosensitivity, intermittent ataxia, nystagmus and tremor.

Nicotinamide is necessary for neutral amino acid transporter production in the proximal renal tubules found in the kidney, and intestinal mucosal cells found in the small intestine. Therefore, a symptom stemming from this disorder results in increased amounts of amino acids in the urine.

Pellagra is also caused by low nicotinamide; this disorder results in dermatitis, diarrhea and dementia.

ee also

* Cystinosis
* Cystinuria

References

External links

* [http://www.umm.edu/ency/article/001201.htm University of Maryland]


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Look at other dictionaries:

  • 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 —       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… …   Universalium

  • 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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