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MeSH Review

Sialic Acid Storage Disease

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Disease relevance of Sialic Acid Storage Disease


Psychiatry related information on Sialic Acid Storage Disease


High impact information on Sialic Acid Storage Disease


Chemical compound and disease context of Sialic Acid Storage Disease


Biological context of Sialic Acid Storage Disease

  • Interestingly, while two missense mutations and one small, in-frame deletion associated with ISSD abolished transport, the mutation causing Salla disease (R39C) slowed down, but did not stop, the transport cycle, thus explaining why the latter disorder is less severe [11].
  • The approach was applied to the sialic acid metabolic pathway in human cells, yielding novel mutants with phenotypes related to the inborn metabolic defect sialuria and metastatic tumor cells [14].
  • This represents the first successful prenatal identification of a patient with Salla disease and indicates that both free sialic acid and free/total sialic acid ratio should be monitored in pregnancies at risk for the disease [15].

Anatomical context of Sialic Acid Storage Disease

  • Sialic acids cleaved off from degraded sialoglycoconjugates are exported from lysosomes by a membrane transporter, named sialin, which is defective in two allelic inherited diseases: infantile sialic acid storage disease (ISSD) and Salla disease [11].
  • While phase microscopy and immunochemical studies demonstrated abnormal storage within intracellular inclusions in ISSD cells, no morphological evidence of storage within any subcellular organelles was found in the sialuria cells [16].
  • The body fluids of a patient with sialuria contain the same O-acylated and unsaturated N-acetyl neuraminic acid derivatives as mentioned above, but the total amounts of free acylneuraminic acids in these materials are significantly higher than found for normal persons [17].
  • The method has been applied to normal and pathological sera from patients with breast, stomach, colon, ovarian and cervix cancers, to normal urine and urine from patient with sialuria and to normal saliva [18].

Gene context of Sialic Acid Storage Disease


Analytical, diagnostic and therapeutic context of Sialic Acid Storage Disease


  1. A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Verheijen, F.W., Verbeek, E., Aula, N., Beerens, C.E., Havelaar, A.C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P.J., Mancini, G.M. Nat. Genet. (1999) [Pubmed]
  2. At the acidic edge: emerging functions for lysosomal membrane proteins. Eskelinen, E.L., Tanaka, Y., Saftig, P. Trends Cell Biol. (2003) [Pubmed]
  3. Nephrosis in two siblings with infantile sialic acid storage disease. Sperl, W., Gruber, W., Quatacker, J., Monnens, L., Thoenes, W., Fink, F.M., Paschke, E. Eur. J. Pediatr. (1990) [Pubmed]
  4. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). Kayashima, T., Matsuo, H., Satoh, A., Ohta, T., Yoshiura, K., Matsumoto, N., Nakane, Y., Niikawa, N., Kishino, T. J. Hum. Genet. (2002) [Pubmed]
  5. Pulmonary emphysema in a nonsmoking patient with Salla disease. Pääkkö, P., Ryhänen, L., Rantala, H., Autio-Harmainen, H. Am. Rev. Respir. Dis. (1987) [Pubmed]
  6. Central and peripheral nervous system dysfunction in the clinical variation of Salla disease. Varho, T., Jääskeläinen, S., Tolonen, U., Sonninen, P., Vainionpää, L., Aula, P., Sillanpää, M. Neurology (2000) [Pubmed]
  7. Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease. Renlund, M., Tietze, F., Gahl, W.A. Science (1986) [Pubmed]
  8. Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts. Renlund, M., Kovanen, P.T., Raivio, K.O., Aula, P., Gahmberg, C.G., Ehnholm, C. J. Clin. Invest. (1986) [Pubmed]
  9. Dominant inheritance of sialuria, an inborn error of feedback inhibition. Leroy, J.G., Seppala, R., Huizing, M., Dacremont, G., De Simpel, H., Van Coster, R.N., Orvisky, E., Krasnewich, D.M., Gahl, W.A. Am. J. Hum. Genet. (2001) [Pubmed]
  10. Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. Seppala, R., Lehto, V.P., Gahl, W.A. Am. J. Hum. Genet. (1999) [Pubmed]
  11. Functional characterization of wild-type and mutant human sialin. Morin, P., Sagné, C., Gasnier, B. EMBO J. (2004) [Pubmed]
  12. Sialic acid metabolism in sialuria fibroblasts. Seppala, R., Tietze, F., Krasnewich, D., Weiss, P., Ashwell, G., Barsh, G., Thomas, G.H., Packman, S., Gahl, W.A. J. Biol. Chem. (1991) [Pubmed]
  13. Identification of the metabolic defect in sialuria. Weiss, P., Tietze, F., Gahl, W.A., Seppala, R., Ashwell, G. J. Biol. Chem. (1989) [Pubmed]
  14. Metabolic selection of glycosylation defects in human cells. Yarema, K.J., Goon, S., Bertozzi, C.R. Nat. Biotechnol. (2001) [Pubmed]
  15. Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes. Renlund, M., Aula, P. Am. J. Med. Genet. (1987) [Pubmed]
  16. Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts. Thomas, G.H., Scocca, J., Miller, C.S., Reynolds, L. Clin. Genet. (1989) [Pubmed]
  17. Neuraminic acid derivatives newly discovered in humans: N-acetyl-9-O-L-lactoylneuraminic acid, N,9-O-Diacetylneuraminic acid and N-acetyl-2,3-dehydro-2-deoxyneuraminic acid. Haverkamp, J., Schauer, R., Wember, M. Hoppe-Seyler's Z. Physiol. Chem. (1976) [Pubmed]
  18. Determination of sialic acids in biological fluids using reversed-phase ion-pair high-performance liquid chromatography. Siskos, P.A., Spyridaki, M.H. J. Chromatogr. B Biomed. Sci. Appl. (1999) [Pubmed]
  19. A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease. Varho, T., Komu, M., Sonninen, P., Holopainen, I., Nyman, S., Manner, T., Sillanpää, M., Aula, P., Lundbom, N. Neurology (1999) [Pubmed]
  20. Report on two patients with Costello syndrome and sialuria. Di Rocco, M., Gatti, R., Gandullia, P., Barabino, A., Picco, P., Borrone, C. Am. J. Med. Genet. (1993) [Pubmed]
  21. Establishment and characterization of an Epstein-Barr virus-transformed B cell line, KM/C8, from a patient with infantile sialic acid storage disease. Nagatsuka, Y., Nakano, C., Nemoto, N., Jike, T., Ono, Y., Hirabayashi, Y. Biochim. Biophys. Acta (1998) [Pubmed]
  22. Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review. Darvish, D. Med. Hypotheses (2003) [Pubmed]
  23. Prenatal diagnosis and confirmation of infantile sialic acid storage disease. Vamos, E., Libert, J., Elkhazen, N., Jauniaux, E., Hustin, J., Wilkin, P., Baumkötter, J., Mendla, K., Cantz, M., Strecker, G. Prenat. Diagn. (1986) [Pubmed]
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