Urinary glycosaminoglycans in aspartylglycosaminuria: evidence for disturbed proteoglycan metabolism.

Abstract

An abnormal excretion pattern of urinary glycosaminoglycans was found in patients with aspartylglycosaminuria, a lysosomal storage disorder of glycoprotein metabolism. The mean daily GAG excretion, measured as uronic acids, was within the reference range, though higher than that of matched controls. However, in AGU patients fractionation of isolated urinary glycosaminoglycans revealed markedly increased proportions of heparan sulfate which were nearly 50% of the total glycosaminoglycans. The changes observed in glycosaminoglycan excretion reflect abnormalities of proteoglycan metabolism. They offer further evidence for the presence of a generalized connective tissue disorder in aspartylglycosaminuria. Increase of heparan sulfate may also refer to abnormalities of glycosaminoglycan metabolism in the central nervous system with a possible role in the neurological manifestations of the disorder.

• Authors: K Näntö-Salonen, H Larjava, M Aalto, T Kivimäki
• Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 146 Issue 2-3 Pg. 111-8 (Mar 15 1985) ISSN: 0009-8981 [Print] Netherlands
• PMID: 3987044 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Glycoproteins
• Glycosaminoglycans
• N-acetylglucosaminylasparagine
• Glucosamine
• Acetylglucosamine

Topics

• Acetylglucosamine (analogs & derivatives, urine)
• Adolescent
• Adult
• Chromatography, High Pressure Liquid
• Chromatography, Thin Layer
• Electrophoresis, Cellulose Acetate
• Female
• Glucosamine (analogs & derivatives)
• Glycoproteins (metabolism)
• Glycosaminoglycans (urine)
• Humans
• Male
• Metabolism, Inborn Errors (urine)