Liquid-chromatographic determination of urinary glycosaminoglycans for differential diagnosis of genetic mucopolysaccharidoses.

Glycosaminoglycans in urine from patients with various mucopolysaccharidoses were digested with chondroitin ABC lyase (EC 4.2.2.4) or chondroitin AC lyase (EC 4.2.2.5), then converted into fluorescent pyridylamino derivatives and analyzed by "high-performance" liquid chromatography. Chromatograms of the chondroitin ABC lyase digests of samples from nine patients with Hunter's syndrome all showed a major peak for unsaturated disaccharide-4-sulfate, derived from dermatan sulfate, and another specific but unidentified peak (peak x). All samples from patients with Hurler's and Scheie's syndromes contained another specific component (peak y), besides the disaccharide-4-sulfate. A sample from a patient with Maroteaux-Lamy syndrome showed peaks for N-acetylgalactosamine-4-sulfate and the disaccharide-4-sulfate, but neither peak x nor peak y. A sample from a patient with Morquio's disease showed a much higher ratio of the 6-sulfate to 4-sulfate than in other diseases, and N-acetylgalactosamine-6-sulfate was detected. We tentatively identified peaks x and y as the pyridylamino derivatives of 2-O-sulfo-L-idosyluronic acid 4-O-sulfo-N-acetylgalactosamine and L-idosyluronic acid 4-O-sulfo-N-acetylgalactosamine, respectively. This method may be useful in differential diagnosis.