Accumulation of mannosyl-beta(1----4)-N-acetylglucosamine in fibroblasts and leukocytes of patients with a deficiency of beta-mannosidase.
Cultured fibroblasts from two brothers with beta-mannosidosis were shown to accumulate the disaccharide mannosyl-beta(1----4)-N-acetylglucosamine in amounts of 52 and 68 nmol/mg protein. Structural identification of the Man beta(1----4)GlcNAc, isolated by HPLC, was performed by 500-MHz 1H-NMR spectroscopy and sugar composition analysis. Control fibroblasts did not contain a detectable amount of Man beta(1----4)GlcNAc. The disaccharide was also present in leukocytes from these patients, but not in controls, as could be demonstrated by thin-layer chromatography and sugar composition analysis. However, the amounts in leukocytes (5 and 6 nmol/mg protein) were much smaller than those in fibroblasts.
van Pelt
J
J
University Children's Hospital Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.
Hokke
C H
CH
Dorland
L
L
Duran
M
M
Kamerling
J P
JP
Vliegenthart
J F
JF
D002478:Cells, Cultured; D004187:Disaccharides / Q000378:metabolism*; D005347:Fibroblasts / Q000378:metabolism*; D006801:Humans; D007962:Leukocytes / Q000201:enzymology / Q000378:metabolism*; D008297:Male; D008361:Mannosidases / Q000172:deficiency* / Q000378:metabolism; D043323:alpha-Mannosidase; D044902:beta-Mannosidase
D004187:Disaccharides; C113367:mannopyranosyl-(1-4)--2-acetamido-2-deoxyglucopyranose; D008361:Mannosidases; D043323:alpha-Mannosidase; D044902:beta-Mannosidase