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Pathway Description
Sialuria or French Type Sialuria
Homo sapiens
Disease Pathway
Sialuria is caused by mutation in the gene encoding uridinediphosphate-N-acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase, which causes an excessive synthesis of sialic acid (N-acetylneuraminic acid, NeuAc). This causes accumulation of sialic acid in the urine. Symptoms of sialuria include hepatosplenomegaly, hypotonia, frequent upper respiratory infections, gastroenteritis and seizures.
References
Sialuria or French Type Sialuria References
Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (2nd ed) (2007) p.95 Heilbronn: SPS Verlagsgesellschaft
Enns GM, Seppala R, Musci TJ, Weisiger K, Ferrell LD, Wenger DA, Gahl WA, Packman S: Clinical course and biochemistry of sialuria. J Inherit Metab Dis. 2001 Jun;24(3):328-36. doi: 10.1023/a:1010588115479.
Pubmed: 11486897
Leroy JG, Seppala R, Huizing M, Dacremont G, De Simpel H, Van Coster RN, Orvisky E, Krasnewich DM, Gahl WA: Dominant inheritance of sialuria, an inborn error of feedback inhibition. Am J Hum Genet. 2001 Jun;68(6):1419-27. doi: 10.1086/320598. Epub 2001 Apr 18.
Pubmed: 11326336
Weiss P, Tietze F, Gahl WA, Seppala R, Ashwell G: Identification of the metabolic defect in sialuria. J Biol Chem. 1989 Oct 25;264(30):17635-6.
Pubmed: 2808337
Leroy JG: Sialuria - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Pubmed: 20301343
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Rogers HJ: The metabolism of the amino sugars. 1. The breakdown of N-acetylglucosamine by strains of Streptococcus haemolyticus and other streptococci. Biochem J. 1949;45(1):87-93.
Pubmed: 16748597
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