- 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 = D006250The causative gene,
SLC6A19 , is located onchromosome 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 thekidney , and intestinal mucosal cells found in thesmall 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 indermatitis ,diarrhea anddementia .ee also
*
Cystinosis
*Cystinuria References
External links
* [http://www.umm.edu/ency/article/001201.htm University of Maryland]
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