Blue diaper syndrome

Blue diaper syndrome
Blue diaper syndrome
Classification and external resources
OMIM 211000
DiseasesDB 33872

Blue diaper syndrome is a rare, autosomal recessive metabolic disorder characterized in infants by bluish urine-stained diapers.

It is caused by a defect in tryptophan absorption. Bacterial degradation of tryptophan in the intestine leads to excessive indole production and thus to indicanuria which, on oxidation to indigo blue, causes a peculiar bluish discoloration of the diaper. Symptoms typically include digestive disturbances, fever and visual problems.

It was characterized in 1964.[1]

Genetics

Blue diaper syndrome has an autosomal recessive pattern of inheritance.

Blue diaper syndrome is thought to be inherited as an autosomal recessive disorder.

Recent research indicates that mutations in the LAT2[2] and TAT1[3] genes might be involved in causing this syndrome

References

  1. ^ Drummond KN, Michael AF, Ulstrom RA, Good RA (1964). "The blue diaper syndrome: Familial hypercalcemia with nephrocalcinosis and indicanuria; A new familial disease, with definition of the metabolic abnormality". Am J Med 37 (6): 928–48. doi:10.1016/0002-9343(64)90134-2. PMID 14246093. 
  2. ^ Park SY, Kim JK, Kim IJ, Choi BK, Jung KY, Lee S, Park KJ, Chairoungdua A, Kanai Y, Endou H, Kim do K (2005). "Reabsorption of neutral amino acids mediated by amino acid transporter LAT2 and TAT1 in the basolateral membrane of proximal tubule". Arch Pharm Res 28 (4): 421–32. doi:10.1007/BF02977671. PMID 15918515. 
  3. ^ Kim do K, Kanai Y, Matsuo H, Kim JY, Chairoungdua A, Kobayashi Y, Enomoto A, Cha SH, Goya T, Endou H (2002). "The human T-type amino acid transporter-1: characterization, gene organization, and chromosomal location". Genomics 79 (1): 95–103. doi:10.1006/geno.2001.6678. PMID 11827462. 

External links



Wikimedia Foundation. 2010.

Игры ⚽ Нужно сделать НИР?

Look at other dictionaries:

  • blue diaper syndrome — a defect of tryptophan absorption in which, because of intestinal bacterial action on the tryptophan, the urine contains abnormal indoles, giving it a blue color. It is similar to Hartnup disease and is thought to have autosomal recessive… …   Medical dictionary

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Blaue-Windeln-Syndrom — Das Blaue Windeln Syndrom (engl. blue diaper syndrome), auch als Tryptophan Malabsorptionssyndrom bezeichnet, ist eine sehr seltene angeborene Stoffwechselerkrankung, bei der es zu einer Malabsorption der Aminosäure Tryptophan kommt. In der Folge …   Deutsch Wikipedia

  • Tryptophan-Malabsorptionssyndrom — Das Blaue Windeln Syndrom (syn. Tryptophan Malabsorptionssyndrom, engl. blue diaper syndrome) ist eine sehr seltene angeborene Stoffwechselerkrankung, bei der es zu einer Malabsorption der Aminosäure Tryptophan kommt. Die Erkrankung wird… …   Deutsch Wikipedia

  • List of diseases (B) — A listing of diseases in the English wikipedia.DiseasesTOC BaBab Bam* Baber s syndrome * Babesiosis * Bacterial endocarditis * Bacterial food poisoning * Bacterial gastroenteritis * Bacterial meningitis * Bacterial pneumonia * Bacterial vaginalis …   Wikipedia

  • Indican — Chembox new ImageFile=Indican.png ImageSize=200px IUPACName=(2 R ,3 S ,4 S ,5 R ,6 S ) 2 (Hydroxymethyl) 6 (1 H indol 3 yloxy)tetrahydropyran 3,4,5 triol OtherNames= Section1= Chembox Identifiers CASNo=1328 73 0 PubChem=441564… …   Wikipedia

  • iminoglycinuria — ▪ pathology       inborn impairment of the transport system of the kidney tubules, which normally reabsorb the amino acids glycine, proline, and hydroxyproline. In young children in whom this transport system fails to develop, high urinary levels …   Universalium

  • Indican — Strukturformel von Indikan aus Pflanzen Der Name Indikan (auch: Indican) bezeichnet zwei ähnliche, aber nicht identische, Verbindungen, deren Gemeinsamkeit ist, dass sie beide als Derivate des Indols angesehen werden können. Inhaltsverzeichnis 1… …   Deutsch Wikipedia

  • Indikan — Strukturformel von Indikan aus Pflanzen Der Name Indikan (auch: Indican) bezeichnet zwei einander ähnliche Derivate des Indols. Inhaltsverzeichnis 1 Pflanzen Indikan …   Deutsch Wikipedia

  • Uroxanthin — Strukturformel von Indikan aus Pflanzen Der Name Indikan (auch: Indican) bezeichnet zwei ähnliche, aber nicht identische, Verbindungen, deren Gemeinsamkeit ist, dass sie beide als Derivate des Indols angesehen werden können. Inhaltsverzeichnis 1… …   Deutsch Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”