Urinary excretion of acid glycosaminoglycans and hydroxyproline in a patient with oculo-cerebro-renal syndrome.

Abstract

Ground substance metabolism in connective tissue of an 18 yr old boy with oculo-cerebro-renal syndrome was studied. He had characteristic clinical and laboratory findings, e.g., growth retardation, mental deficiency, glaucoma, cataracta, decreased muscle tone, metabolic acidosis, aminoaciduria and osteomalacia. The urinary excretion of acid glycosaminoglycans and of total hydroxyproline were 28 mg/day (as glucuronic acid) and 280 mg/day respectively on admission. Both values decreased to the upper limits of normal level transiently during treatment with alkali and vitamin D2. At that time, an improvement in bone abnormalities, a decrease of serum alkaline phosphatase, and an elevation of serum Pi were observed. The therapy prevented him from progressive osteomalacia and cured him of it, but mucopolysacchariduria and hydroxyprolinuria did not disappear. Analytical electrophoresis on cellulose acetate sheets showed that urinary acid glycosaminoglycans were composed of undersulfated chondroitin 4-/6-sulfate and heparin sulfate with a ratio of 6:4, on admission. After oral administration of alkali, the excretion of heparin sulfate decreased and undersulfated chondroitin 4-/6-sulfate was determined as a main component of urinary acid glycosaminoglycans. The increased excretion of acid glycosaminoglycans and total hydroxyproline was apparently caused by abnormal metabolism in connective tissues, especially by the bone abnormalities, in this syndrome.