PathWhiz

Pathway Description

Blue Diaper Syndrome

Homo sapiens

Disease Pathway

Blue diaper syndrome is a recessive metabolic disorder that has not yet been determined to be X-linked or autosomal. This syndrome is caused by a mutation in the large neutral amino acids transporter small subunit 1 protein, which allows tryptophan, among other amino acids, to be reabsorbed in the kidneys. The excess tryptophan found in the intestine is digested by bacteria which excrete indole, which can undergo oxidation to produce indigo blue. This is seen in the diapers of infants affected by blue diaper syndrome, due to the increased levels of indole in their urine or feces. Other symptoms can include bacterial infections, damage to various parts of the eye, hypercalcemia, and impaired kidney function due to this. Treatment can include a calcium restricted diet in order to prevent hypercalcemia, and a tryptophan restricted diet to prevent all systems. If bacterial infections are common, antibiotics may be prescribed.

References

Blue Diaper Syndrome References

[Metagen: BLUE DIAPER SYNDROME](http://metagene.de/program/d.prg?id_d=300)

[OMIM: 211000](http://omim.org/entry/211000})

[Blue Diaper Syndrome](http://en.wikipedia.org/wiki/Blue_diaper_syndrome)

DRUMMOND KN, MICHAEL AF, ULSTROM RA, GOOD RA: THE BLUE DIAPER SYNDROME: FAMILIAL HYPERCALCEMIA WITH NEPHROCALCINOSIS AND INDICANURIA; A NEW FAMILIAL DISEASE, WITH DEFINITION OF THE METABOLIC ABNORMALITY. Am J Med. 1964 Dec;37:928-48.

Pubmed: 14246093

Libit SA, Ulstrom RA, Doeden D: Fecal pseudomonas aeruginosa as a cause of the blue diaper syndrome. J Pediatr. 1972 Sep;81(3):546-7. doi: 10.1016/s0022-3476(72)80186-0.

Pubmed: 4626127

Kidney Function References

Mount DB: Thick ascending limb of the loop of Henle. Clin J Am Soc Nephrol. 2014 Nov 7;9(11):1974-86. doi: 10.2215/CJN.04480413. Epub 2014 Oct 15.

Pubmed: 25318757

Giebisch G: Renal potassium channels: function, regulation, and structure. Kidney Int. 2001 Aug;60(2):436-45. doi: 10.1046/j.1523-1755.2001.060002436.x.

Pubmed: 11473623

Subramanya AR, Ellison DH: Distal convoluted tubule. Clin J Am Soc Nephrol. 2014 Dec 5;9(12):2147-63. doi: 10.2215/CJN.05920613. Epub 2014 May 22.

Pubmed: 24855283

Enter relative concentration values (without units). Elements will be highlighted in a color gradient where red = lowest concentration and green = highest concentration. For the best results, view the pathway in Black and White.

Visualize Compound Data

		Aldosterone
		Chloride ion
		Hydrogen carbonate
		L-Cysteine
		Potassium
		Sodium
		Urea
		Water

Visualize Protein Data

		4F2 cell-surface antigen heavy chain
		Amiloride-sensitive sodium channel subunit alpha
		Amiloride-sensitive sodium channel subunit beta
		Amiloride-sensitive sodium channel subunit delta
		Amiloride-sensitive sodium channel subunit gamma
		Aquaporin-1
		Aquaporin-2
		Aquaporin-3
		ATP-sensitive inward rectifier potassium channel 1
		ATPase, (Na+)/K+ transporting, beta 4 polypeptide
		B(0,+)-type amino acid transporter 1
		Chloride channel protein ClC-Ka
		Excitatory amino acid transporter 3
		Large neutral amino acids transporter small subunit 1
		Large neutral amino acids transporter small subunit 2
		Mineralocorticoid receptor
		Neutral and basic amino acid transport protein rBAT
		Sodium- and chloride-dependent transporter XTRP3
		Sodium-coupled neutral amino acid transporter 4
		Sodium/potassium-transporting ATPase subunit alpha-1
		Sodium/potassium-transporting ATPase subunit alpha-2
		Sodium/potassium-transporting ATPase subunit alpha-3
		Sodium/potassium-transporting ATPase subunit alpha-4
		Sodium/potassium-transporting ATPase subunit beta-1
		Sodium/potassium-transporting ATPase subunit beta-2
		Sodium/potassium-transporting ATPase subunit beta-3
		Sodium/potassium-transporting ATPase subunit gamma
		Solute carrier family 12 member 1
		Solute carrier family 12 member 3
		Solute carrier family 12 member 6
		Solute carrier family 22 member 2
		Solute carrier family 22 member 6
		Urea transporter 2
		Y+L amino acid transporter 1
		Y+L amino acid transporter 2