Abstract
An 18-year-old boy with oculo-cerebro-renal syndrome excreted a large amount of acid glycosaminoglycans in urine. The identification and characterization of the acid glycosaminoglycans were carried out by the methods of preparative column electrophoresis, ion exchange chromato-graphy, gelfiltration, paper chromatography of the chondroitinase digests and chemical analysis. On admission to hospital, the main components of the urinary acid glyeosaminoglycans were undersulfated chondroitin 4-sulfate of large molecular weight and heparan sulfate. Three months after oral administration of the supplement of alkali, the excretion of heparan sulfate and the molecular size of chondroitin 4-sulfate decreased significantly, although the amount of urinary acid glycosaminoglycans remained at a high level (about 25mg/day). The decrease of heparan sulfate and the shift to a smaller molecule of chondroitin 4-sulfate were coincident with the improvement in clinical and laboratory findings. These results suggest that the abnormal metabolism of acid glycosaminoglycans is a characteristic manifestation in this case and the studies on ground substance metabolism might be an important approach to the pathogenesis of this syndrome.
