Blue diaper syndrome
Blue diaper syndrome | |
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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 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
- ↑ 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.
- ↑ 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.
- ↑ 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
- Blue diaper syndrome at NIH's Office of Rare Diseases
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