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ABSTRACT Mannosidosis is noteworthy among lysosomal storage diseases affecting the nervous system for having a low mortality and a stable clinical course. Comparative studies of
oligosaccharides were carried out on serum and urine of a 31-year-old man with mannosidosis (Arch Neurol 34:45, 1977) whose neurologic status has been stable since the age of 8 years. A
mannose-containing trisaccharide with two mannose and one N-acetyl glucosamine residues was predominant in urine (304 mg/1), in agreement with other reported cases. By use of a sensitive new
high pressure chromatographic procedure, a very low level of this trisaccharide was detected in serum (0.1-0.4 nmol/ml), with respective urinary values from 161 to 558 nmol/ml. The urinary
clearance of trisaccharide was on average 16.1 times the glomerular filtration rate of creatinine, suggesting that the renal tubular cell is the immediate source of urinary oligosaccharides.
The substrate burden in brain is much less in mannosidosis (0.11 μmol/g; J Pediatr 75:360, 1969) than it is in fucosidosis (19.9 μmol/g; J Neurochem 27:733, 1976), despite the fact that
both diseases reflect a failure to catabolize glycoproteins. Our data suggest that upon maturation of the kidney a mannose receptor is elaborated which, by removing mannose-rich
oligosaccharides from the circulation, favors the elimination of excess oligosaccharides and lowers the substrate burden for brain. (Supported in part by USPHS grants HD 05515 and HD 04147)
ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Harvard Med Sch, E.K. Shriver Ctr-Mass Gen Hosp, Depts Ped/Neurol, Boston Ira T Lott & Peter F Daniel Authors * Ira T Lott View
author publications You can also search for this author inPubMed Google Scholar * Peter F Daniel View author publications You can also search for this author inPubMed Google Scholar RIGHTS
AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Lott, I., Daniel, P. 1589 NEUROLOGIC STABILITY AND OLIGOSACCHARIDE EXCRETION IN MANNOSIDOSIS. _Pediatr Res_ 15
(Suppl 4), 708 (1981). https://doi.org/10.1203/00006450-198104001-01606 Download citation * Issue Date: 01 April 1981 * DOI: https://doi.org/10.1203/00006450-198104001-01606 SHARE THIS
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