The effect of D-(+)-glucosamine on levels of free N-acetylneuraminic acid and UDP-N-acetylhexosamines in infantile sialic acid storage disease (ISSD) fibroblasts.
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.
D005347:Fibroblasts / Q000032:analysis; D005944:Glucosamine / Q000494:pharmacology*; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000378:metabolism*; D019158:N-Acetylneuraminic Acid; D012794:Sialic Acids / Q000032:analysis / Q000378:metabolism*; D014537:Uridine Diphosphate N-Acetylglucosamine / Q000032:analysis; D014539:Uridine Diphosphate Sugars / Q000032:analysis*
D012794:Sialic Acids; D014539:Uridine Diphosphate Sugars; D014537:Uridine Diphosphate N-Acetylglucosamine; D019158:N-Acetylneuraminic Acid; D005944:Glucosamine