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The effect of d ‐(+)‐glucosamine on levels of free N ‐acetylneuraminic acid and UDP‐ N ‐acetylhexosamines in infantile sialic acid storage disease (ISSD) fibroblasts
Author(s) -
Paschke E.,
Höfler G.,
Roscher A.
Publication year - 1987
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799487
Subject(s) - hexosamines , sialic acid , glucosamine , n acetylneuraminic acid , biochemistry , uridine diphosphate , neuraminic acid , biosynthesis , chemistry , uridine , rna , gene , enzyme
An impairment in the regulation of N ‐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.