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

• Online 'Mendelian Inheritance in Man' (OMIM) Blue diaper syndrome; Hypercalcemia, familial, with Nephrocalcinosis and Indicanuria -211000
• Blue diaper syndrome at NIH's Office of Rare Diseases