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Pathway Description
Blue Diaper Syndrome
Rattus norvegicus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
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
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
Kidney Function References
Gamba G, Miyanoshita A, Lombardi M, Lytton J, Lee WS, Hediger MA, Hebert SC: Molecular cloning, primary structure, and characterization of two members of the mammalian electroneutral sodium-(potassium)-chloride cotransporter family expressed in kidney. J Biol Chem. 1994 Jul 1;269(26):17713-22.
Pubmed: 8021284
Uchida S, Sasaki S, Furukawa T, Hiraoka M, Imai T, Hirata Y, Marumo F: Molecular cloning of a chloride channel that is regulated by dehydration and expressed predominantly in kidney medulla. J Biol Chem. 1993 Feb 25;268(6):3821-4.
Pubmed: 7680033
Uchida S, Sasaki S, Furukawa T, Hiraoka M, Imai T, Hirata Y, Marumo F: Molecular cloning of a chloride channel that is regulated by dehydration and expressed predominantly in kidney medulla. J Biol Chem. 1994 Jul 22;269(29):19192.
Pubmed: 8034678
Kieferle S, Fong P, Bens M, Vandewalle A, Jentsch TJ: Two highly homologous members of the ClC chloride channel family in both rat and human kidney. Proc Natl Acad Sci U S A. 1994 Jul 19;91(15):6943-7. doi: 10.1073/pnas.91.15.6943.
Pubmed: 8041726
Lingueglia E, Voilley N, Waldmann R, Lazdunski M, Barbry P: Expression cloning of an epithelial amiloride-sensitive Na+ channel. A new channel type with homologies to Caenorhabditis elegans degenerins. FEBS Lett. 1993 Feb 22;318(1):95-9. doi: 10.1016/0014-5793(93)81336-x.
Pubmed: 8382172
Canessa CM, Horisberger JD, Rossier BC: Epithelial sodium channel related to proteins involved in neurodegeneration. Nature. 1993 Feb 4;361(6411):467-70. doi: 10.1038/361467a0.
Pubmed: 8381523
Kreutz R, Struk B, Rubattu S, Hubner N, Szpirer J, Szpirer C, Ganten D, Lindpaintner K: Role of the alpha-, beta-, and gamma-subunits of epithelial sodium channel in a model of polygenic hypertension. Hypertension. 1997 Jan;29(1 Pt 1):131-6. doi: 10.1161/01.hyp.29.1.131.
Pubmed: 9039092
Canessa CM, Schild L, Buell G, Thorens B, Gautschi I, Horisberger JD, Rossier BC: Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits. Nature. 1994 Feb 3;367(6462):463-7. doi: 10.1038/367463a0.
Pubmed: 8107805
Shimkets RA, Lifton R, Canessa CM: In vivo phosphorylation of the epithelial sodium channel. Proc Natl Acad Sci U S A. 1998 Mar 17;95(6):3301-5. doi: 10.1073/pnas.95.6.3301.
Pubmed: 9501257
Lingueglia E, Renard S, Waldmann R, Voilley N, Champigny G, Plass H, Lazdunski M, Barbry P: Different homologous subunits of the amiloride-sensitive Na+ channel are differently regulated by aldosterone. J Biol Chem. 1994 May 13;269(19):13736-9.
Pubmed: 8188647
Bjoras M, Gjesdal O, Erickson JD, Torp R, Levy LM, Ottersen OP, Degree M, Storm-Mathisen J, Seeberg E, Danbolt NC: Cloning and expression of a neuronal rat brain glutamate transporter. Brain Res Mol Brain Res. 1996 Feb;36(1):163-8. doi: 10.1016/0169-328x(95)00279-2.
Pubmed: 9011753
Kanai Y, Bhide PG, DiFiglia M, Hediger MA: Neuronal high-affinity glutamate transport in the rat central nervous system. Neuroreport. 1995 Nov 27;6(17):2357-62. doi: 10.1097/00001756-199511270-00020.
Pubmed: 8747153
Kiryu S, Yao GL, Morita N, Kato H, Kiyama H: Nerve injury enhances rat neuronal glutamate transporter expression: identification by differential display PCR. J Neurosci. 1995 Dec;15(12):7872-8.
Pubmed: 8613726
Segawa H, Fukasawa Y, Miyamoto K, Takeda E, Endou H, Kanai Y: Identification and functional characterization of a Na+-independent neutral amino acid transporter with broad substrate selectivity. J Biol Chem. 1999 Jul 9;274(28):19745-51. doi: 10.1074/jbc.274.28.19745.
Pubmed: 10391916
Fraga S, Pinho MJ, Soares-da-Silva P: Expression of LAT1 and LAT2 amino acid transporters in human and rat intestinal epithelial cells. Amino Acids. 2005 Nov;29(3):229-33. doi: 10.1007/s00726-005-0221-x. Epub 2005 Jul 20.
Pubmed: 16027961
Tomi M, Mori M, Tachikawa M, Katayama K, Terasaki T, Hosoya K: L-type amino acid transporter 1-mediated L-leucine transport at the inner blood-retinal barrier. Invest Ophthalmol Vis Sci. 2005 Jul;46(7):2522-30. doi: 10.1167/iovs.04-1175.
Pubmed: 15980244
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000583
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