Medizinische Universität Graz - Research portal
Selected Publication:
Paschke, E; Gruber, W; Ring, E; Sperl, W.
Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease.
J Inherit Metab Dis. 1992; 15(1):47-56
Doi: 10.1007/BF01800343
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
- Leading authors Med Uni Graz
- Paschke Eduard
- Co-authors Med Uni Graz
- Ring Ekkehard
- Altmetrics:
- Dimensions Citations:
- Plum Analytics:
- Scite (citation analytics):
- Abstract:
- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Glycosaminoglycans - urine
- Humans - urine
- Infant - urine
- Lysosomal Storage Diseases - complications
- Nephrotic Syndrome - complications
- Oligosaccharides - urine
- Phenotype - urine
- Sialic Acids - metabolism
- Sialoglycoproteins - urine
- Tissue Distribution - urine