Urinary acid glycosaminoglycans in a patient with oculo-cerebro-renal syndrome.

Abstract
An 18 yr 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 preparative column electrophoresis, ion exchange chromatography, gel filtration, paper chromatography of the chondroitinase digests and chemical analysis. On admission to hospital, the main components of the urinary acid glycosaminoglycans were undersulfated chondroitin 4-sulfate of large MW and heparin sulfate. Three mo. after oral administration of the alkali supplement, heparin sulfate excretion and molecular size of chondroitin 4-sulfate decreased significantly, although the amount of urinary acid glycosaminoglycans remained at a high level (about 25 mg/day). The decrease of heparin sulfate and the shift to a smaller molecule of chondroitin 4-sulfate were coincident with the improvement in clinical and laboratory findings. The abnormal metabolism of acid glycosaminoglycans apparently is a characteristic manifestation and ground substance metabolism studies might be an important approach to the pathogenesis of this syndrome.