Blue diaper syndrome

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Blue diaper syndrome is a rare, inherited metabolic disorder characterized in infants by bluish urine-stained diapers. It is caused by a defect in tryptophan absorption. Bacterial degradation of the 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.

Blue diaper syndrome is thought to be inherited as an autosomal recessive disease. Recent research indicates that mutations in the LAT2 and TAT1 genes might be involved in causing this syndrome.

References

• 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: 928–48.CS1 maint: Multiple names: authors list (link) PMID 14246093
• 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.CS1 maint: Multiple names: authors list (link) PMID 11827462
• 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.CS1 maint: Multiple names: authors list (link) PMID 15918515

External links

• Online Mendelian Inheritance in Man (OMIM) 211000

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