caa a22 4500 469043784 CHVBK 20180323132818.0 cr unu---uuuuu 170328e19920101xx s 000 0 eng 10.1007/BF01800343 doi (NATIONALLICENCE)springer-10.1007/BF01800343 Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease [Elektronische Daten] [E. Paschke, W. Gruber, E. Ring, W. Sperl] Summary: We analysed urine and tissue specimens from two nephrotic infantile sialic acid storage disease patients (nISSD) for free and bound sialic acids in comparison to non-nephrotic ISSD patients (ISSD), patients with minimal change nephrosis (nControl) and normal controls (Control). No differences in the excretion of urinary free sialic acid could be detected between ISSD and nISSD urines. Sialyloligosaccharide fractions were only slightly elevated and of apparently normal composition. Owing to glomerular dysfunction, measurable quantities of protein-bound sialic acids were present in nISSD and nControl. In nISSD tissues, free sialic acid was elevated 18-100-fold above control and 3-12-fold above Niemann-Pick A (NPA) samples. The storage of membrane-bound sialic acid was slightly increased compared to control tissues, but equal to those from NPA, thus reflecting an unspecific increase of membranes due to lysosomal storage. According to these results no major biochemical differences were detectable between ISSD and nISSD. The nephrotic syndrome in nISSD could not be related to a general deficit in the sialylation of glycoproteins. Nevertheless, a cell membrane-specific alteration in sialoglycoproteins of glomerular cells might still be possible. SSIEM and Kluwer Academic Publishers, 1992 Paschke E. Department of Pediatrics, University of Graz, Auenbruggerplatz 30, A-8036, Graz, Austria aut Gruber W. Department of Pediatrics, University of Graz, Auenbruggerplatz 30, A-8036, Graz, Austria aut Ring E. Department of Pediatrics, University of Graz, Auenbruggerplatz 30, A-8036, Graz, Austria aut Sperl W. Department of Pediatrics, University of Innsbruck, A-6020, Innsbruck, Austria aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/1(1992-01-01), 47-56 0141-8955 15:1<47 1992 15 10545 https://doi.org/10.1007/BF01800343 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01800343 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Paschke E. Department of Pediatrics, University of Graz, Auenbruggerplatz 30, A-8036, Graz, Austria aut NATIONALLICENCE 700 1- Gruber W. Department of Pediatrics, University of Graz, Auenbruggerplatz 30, A-8036, Graz, Austria aut NATIONALLICENCE 700 1- Ring E. Department of Pediatrics, University of Graz, Auenbruggerplatz 30, A-8036, Graz, Austria aut NATIONALLICENCE 700 1- Sperl W. Department of Pediatrics, University of Innsbruck, A-6020, Innsbruck, Austria aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/1(1992-01-01), 47-56 0141-8955 15:1<47 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer