Summary
Modifications of the assay method of Aminoff (1961) for the determination of sialic acid levels in urine, amniotic fluid, cultured cell homogenates and tissue homogenates, which reduce the interference from proteins by precipitation and from interfering chromogens by second derivative spectroscopy are described.
Biochemical profiles of patients from three families with different clinical forms of sialic acid storage disease were made using data obtained with the new method. A family with two patients with the clinically severe, early-onset form is described, in which a 9-fold elevation of sialic acid can be detected in the skin fibroblasts and a 12-fold elevation in the urine. A patient from the second family is described with very severe clinical features and with 160-fold and 16-fold elevations of sialic acid in the urine and skin fibroblasts respectively. A patient from a third family is described with mild clinical features but with a 160-fold and 6-fold elevation of sialic acid in urine and skin fibroblasts respectively. The data obtained in this study are compared with data obtained in other laboratories on other patients.
The method was used to assess the levels of sialic acid present in amniotic cells and chorionic villus cells obtained prenatally from pregnancies in each of the three families. In one case, in which amniotic cells were elevated in sialic acid and were vacuolated, the pregnancy was terminated. Follow-up studies confirmed the diagnosis. Pregnancies from the other two families were assessed to be not affected.
Similar content being viewed by others
References
Aminoff, D. Methods for the quantitative estimation ofN-acetylneuraminic acid and their application to hydrolysates of sialomucoids.Biochem. J. 81 (1961) 384–392
Aula, P., Autio, S., Raivio, K. O., Rapola, J., Thóden, G. J., Koskela, S. L. and Yamashina, I. Salla disease. A new lysosomal storage disorder.Arch. Neurol. 36 (1979) 88–94
Bartels, H., Böhmer, M. and Heierli, C. Serum Kreatinininbestimmung ohne Enteiweissen.Clin. Chim. Acta 37 (1972) 193–197
Baumkötter, J., Harms, E. and Cantz, M. Sialic acid storage disease (SASD): further studies in cultured fibroblasts.Eur. J. Pediatrics 144 (1986) 522
Baumkötter, J., Cantz, M., Mendla, K., Baumann, W., Friebolin, H., Gehler, J. and Spranger, J.N-acetylneuraminic acid storage disease.Hum. Genet. 71 (1985) 155–159
Brunetti, P., Swanson, A. and Roseman, S. Enzymatic determination of sialic acids.Methods Enzymol. 6 (1963) 465–473
Cannon, D. C. (1974). In Henry, R. J., Cannon, D. C. and Winkelman, J. W. (eds.),Clinical Chemistry, Principles and Techniques, 2nd edn., Harper and Row, New York, pp. 1536–1540
Cardo, P. P., Lombardo, C. and Gatti, R. A simple detection of sialic acid storage disorders by urinary ‘free’ and ‘total’ sialic acid determinations.Clin. Chim. Acta 150 (1985) 129–135
Carey, W. F. and Pollard, A. C. Variability of fibroblast lysosomal acid hydrolases with reference to the detection of enzyme deficiencies.Aust. J. Exp. Biol. Med. Sci. 55 (1977) 245–252
Clements, P. R. and Hopwood, J. J. Prenatal diagnosis of sialic storage disease. Human Genetics Society of Australia, Annual Meeting, 1985, p. 68
Comb, D. G. and Roseman, S. The sialic acids. I. The structure and enzymatic synthesis ofN-acetylneuraminic acid.J. Biol. Chem. 235 (1960) 2529–2537
Corfield, A. P., Ferreira Do Amaral, C., Wember, M. and Schauer, R. The metabolism ofO-acyl-N-acetylneuraminic acids.Eur. J. Biochem. 68 (1976) 597–610
Fontaine, G., Biserte, G., Montreuil, J., Dupont, A., Farriaux, J. P., Strecker, G., Spik, G., Puvion, E., Puvion-Dutilleul, F., Sezille, G. and Picque, M. T. La sialurie: un trouble metabolique original.Helv. Paediatr. Acta 23 (Suppl. XVII) (1968) 1–32
Gillan, J. E., Lowden, J. A., Gaskin, K. and Cutz, E. Congenital ascites as a presenting sign of lysosomal storage disease.J. Pediatrics 104 (1984) 225–231
Hammond, K. S. and Papermaster, D. S. Fluorometric assay of sialic acid in the picomole range: a modification of the thiobarbituric acid assay.Anal. Biochem. 74 (1976) 292–297
Hancock, L. W., Thaler, M. M., Horwitz, A. L. and Dawson, G. GeneralizedN-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues.J. Neurochem. 38 (1982) 803–809
Hancock, L. W., Horwitz, A. L. and Dawson, G.N-acetylneuraminic acid and sialoglycoconjugate metabolism in fibroblasts from a patient with generalizedN-acetylneuraminic acid storage disease.Biochim. Biophys. Acta 760 (1983) 42–52
Kamerling, J. P., Vliegenthart, J. E. G., Schauer, R., Strecker, G. and Montreuil, J. Isolation and identification of 2-deoxy-2,3-didehydro-N-acetylneuraminic acid from the urine of a patient with sialuria.Eur. J. Biochem. 56 (1975) 253–258
Kamerling, J. P., Strecker, G., Farriaux, J.-P., Dorland, L., Haverkamp, J. and Vliengenthart, J. E. G. 2-Acetamidoglucal, a new metabolite isolated from the urine of a patient with sialuria.Biochim. Biophys. Acta 583 (1979) 403–408
Kuwahara, S. S. Carbohydrate interference in assays based on the periodate-coupled thiobarbituric acid reagent.Anal. Biochem. 101 (1980) 54–60.
Mancini, G. M. S., Verheijen, F. W. and Galjaard, H. FreeN-acetyl-neuraminic acid (NANA) storage disorders: evidence for defective NANA transport across the lysosomal membrane.Hum. Genet. 73 (1986) 214–217
Markwell, M. A. L., Hass, S. M., Bieber, L. L. and Tolbert, N. E. A modification of the Lowry procedure to simplify protein determination in membrane and lipoprotein samples.Anal. Biochem. 87 (1978) 206–210
McKusick, V. A.Mandelian Inheritance in Man, 7th edn. Johns Hopkins University Press, Baltimore. (1986)
McKusick, V. A. and Neufeld, E. In Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., Goldstein, J. L. and Brown, M. S. (eds.),The Metabolic Basis of Inherited Diseases, 5th edn. (1983), McGraw-Hill, New York, pp. 751–771
Montreuil, J., Biserte, G., Strecker, G., Spik, G., Fontaine, G. and Farriaux, J. P. Description d'un nouveau type de meliturie: la sialurie.Clin. Chim. Acta 21 (1968) 61–69
Pashke, E., Trinkl, G., Erwa, W., Pavelka, M., Mutz, I. and Roscher, A. Infantile type of sialic acid storage disease with sialuria.Clin. Genet. 29 (1986) 417–424
Renlund, M., Chester, M. A., Lundblad, A., Aula, P., Raivio, K. O., Autio, S. and Koskela, S-L. Increased urinary excretion of freeN-acetylneuraminic acid in thirteen patients with Salla disease.Eur. J. Biochem. 101 (1979) 245–250
Renlund, M., Kovanen, P., Raivio, K. O., Aula, P., Gahmberg, C. G. and Enholm, C. Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease.J. Clin. Invest. 77 (1986) 568–574
Renlund, M., Tietze, F. and Gahl, W. A. Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease.Science 232 (1986b) 759–762
Roboz, J., Suttajit, M. and Bekesi, J. G. Elimination of 2-deoxyribose interference in the thiobarbituric acid determination ofN-acetyl neuraminic acid in tumor cells by pH-dependent extraction with cyclohexanone.Anal. Biochem. 110 (1981) 380–388
Saifer, A. and Gerstenfeld, S. Photometric determination of sialic acids in serum and cerebrospinal fluid with the thiobarbituric acid method.Clin. Chim. Acta 7 (1962) 467–475
Scopes, R. K.Protein Purification: Principles and Practice. Springer-Verlag, New York, 1982, p. 59
Sewell, A. C. An improved thin-layer chromatographic method for urinary oligosaccharide screening.Clin. Chim. Acta 92 (1979) 411–414
Stevenson, R. E., Lubinsky, M., Taylor, H. A., Wenger, D. A., Schroer, R. J. and Olmstead, P. M. Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.Pediatrics 72 (1983) 441–449
Thomas, G. H., Reynolds, L. W. and Miller, C. S. Overproduction ofN-acetylneuraminic acid (sialic acid) by sialuria fibroblasts.Pediatr. Res. 19 (1985) 451–455
Tondeur, M., Libert, J., Vamos, E., van Hoof, F., Thomas, G. H. and Strecker, G. Infantile form of sialic acid storage disorder: clinical, ultrastructural and biochemical studies in two siblings.Eur. J. Pediatr. 139 (1982) 142–147
Vamos, E., Libert, J., Elkhazen, N., Jauniaux, E., Hustin, J., Wilkin, P., Baumkötter, J., Mendla, K., Cantz, M. and Strecker, G. Prenatal diagnosis and confirmation of infantile sialic acid storage disease.Prenatal Diagn. 6 (1986) 437–446
Van Rinsum, J., van Dijk, W., Hooghwinkel, G. J. M. and Ferwerda, W. Subcellular localization and tissue distribution of sialic acid precursor-forming enzymes.Biochem. J. 210 (1983) 21–28
Wilcken, B., Don, N., Greenway, R., Hammond, J. and Sosula, L. Sialuria: a second case.J. Inher. Metab. Dis. (1987) (In press)
Wolburg-Buchholz, K., Schlote, W., Baumkötter, J., Cantz, M., Holder, H. and Harzer, K. Familial lysosomal storage disease with generalized vacuolization and sialic aciduria. Sporadic Salla disease.Neuropediatrics 16 (1985) 67–75
Ylitalo, V., Hagberg, B., Rapola, J., Mansson, J. E., Svennerholm, L., Sanner, G. and Tonnby, G. Salla disease variants: sialoylaciduric encephalopathy with increased sialidase activity in two non-Finnish children.Neuropediatrics 17 (1986) 44–47
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Clements, P.R., Taylor, J.A. & Hopwood, J.J. Biochemical characterization of patients and prenatal diagnosis of sialic acid storage disease for three families. J Inherit Metab Dis 11, 30–44 (1988). https://doi.org/10.1007/BF01800055
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01800055