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The effect ofd-(+)-glucosamine on levels of freeN-acetylneuraminic acid and UDP-N-acetylhexosamines in infantile sialic acid storage disease (ISSD) fibroblasts

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Journal of Inherited Metabolic Disease

Abstract

An impairment in the regulation ofN-acetylneuraminic acid (NANA) biosynthesis might potentially contribute to accumulation of free NANA in fibroblasts of patients with sialic acid storage disease (ISSD). By the use of a glucosamine loading test an increase in uridine-diphosphate-N-acetyl-hexosamines (UDP-HexNAc) but not in free NANA was found. NANA biosynthesis therefore appears to be under normal regulatory control in ISSD.

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Authors and Affiliations

  1. Department of Pediatrics, University of Graz, Auenbruggerplatz, A-8036, Graz, Austria

    E. Paschke, G. Höfler & A. Roscher

Authors
  1. E. Paschke
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  2. G. Höfler
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  3. A. Roscher
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Paschke, E., Höfler, G. & Roscher, A. The effect ofd-(+)-glucosamine on levels of freeN-acetylneuraminic acid and UDP-N-acetylhexosamines in infantile sialic acid storage disease (ISSD) fibroblasts. J Inherit Metab Dis 10, 48–51 (1987). https://doi.org/10.1007/BF01799487

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  • DOI: https://doi.org/10.1007/BF01799487

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