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Onset of paralysis by cervical spinal cord injury led immediately to temporary adrenocortical activation and, within 2 days, to sustained skin and bone breakdown. Urine cAMP was increased, blood parathyroid hormone, renin activity, and electrolytes were normal, and fluid and electrolytes balance became negative during the initial 6 days of paralysis.

Summary: The study of a 5-year old patient with a mucopolysaccharidosis different from those already known has given the opportunity to describe the clinical, biochemical and enzymic characteristics of JV-acetylglucosamine-6-sulfate sulfatase deficiency.The patient was delayed physically and mentally, was hyperactive, and had a short attention span. He had fair complexion and very blond, but coarse and excessive hair. He had mild hepato-splenomegaly and dysostosis multiplex, including hypoplastic odontoid process of the atlas, ovoid vertebral bodies, small femoral epiphyses, and modest enlargement of the ribs. He had a mild, bilateral conductive hearing loss. The urine gave a strongly positive spot test with Azur A paper. Quantitative measurement of urinary glycosaminoglycans demonstrated increased excretion and inadequate degradation of heparan sulfate and keratan sulfate. The microscopic examination of the stained peripheral leukocytes revealed metachromatic material which formed a ring on the inner aspect of the cellular membrane in 20% of the lymphocytes. The rate of degradation of 35SO4-labeled intracellular glycosaminoglycans by cutaneous fibroblasts was delayed and inadequate.The measurements of several lysosomal enzymes whose deficiencies are responsible for the known mucopolysaccharidoses gave results within normal ranges. GaIactose-6-sulfate (Gal-6-S), N-acetylgalactosamine-6-sulfate (GalNAc-6-S), and N-acetylglu-cosamine-6-sulfate (GlcNAc-6-S) were prepared with chlorosulfonic acid, according to the method of Suzuki and Strominger (38). After chromatographic purification, aliquots of the three 6-sulfated monosaccharides were reduced with sodium borotritide. Measurements of Gal-6-S sulfatase, GalNAc-6-S sulfatase, and GlcNAc-6-S sulfatase were performed on extracts of normal cultured fibroblasts and of fibroblasts of the propositus, his parents, and several Morquio patients. Additionally, GalNAc-6-S sulfatase and GlcNAc-6-S sulfatase activities were also measured, using as substrate 500 nmol tetrasaccharide obtained from either chon-droitin-6-sulfate or nonradioactive GlcNAc-6-S. The measurement demonstrated that the propositus has a defective GlcNAc-6-S sulfatase activity, but normal activities for Gal-6-S and GalNAc-6-S sulfatase.These findings are in contrast with those found with fibroblast extracts of Morquio patients, since they have low or nondetectable activities of Gal-6-S and GalNAc-6-S sulfatase but normal GlcNAc-6-S sulfatase activity.Extracts of leukocytes and fibroblasts of the propositus' parents, when tested with radioactive or nonradioactive substrates, had normal levels of GalNAc-6-S sulfatase activity but decreased levels of GlcNAc-6-S sulfatase activity (50–60% of normal).Speculation: The possible existence of two different sulfatases, specific for 6-sulfated hexoses with the glucose or galactose configuration, has been suggested (10).The study of a patient with a novel mucopolysaccharidosis, characterized by defective degradation of keratan sulfate and heparan sulfate, has provided the opportunity of describing the clinical and biochemical features of GlcNAc-6-S sulfatase deficiency. These findings confirm that the defective degradation of keratan sulfate and chondroitin-6-sulfate typical of classic Morquio disease is caused by the deficiency of a sulfatase specific for Gal-6-S and GalNAc-6-S.

The method for the measurement of urinary glycosaminoglycans, based on their precipitation with quaternary ammonium salts, has been extended to include the measurement of low molecular weight, hexuronic acid-containing anionic compounds, tentatively considered to be degradation products of glycosaminoglycans.The ratio mg urinary glycosaminoglycans/mg 'degradation products', measured either on a 24-hour or on a sporadic urine specimen, has been found to be less than 1.0 in normal individuals and consistently greater than 1.0 in children affected by various mucopolysaccharide-storage diseases. From the results obtained, the method appears to be of diagnostic importance, especially when a complete 24-hour urine specimen may not be available.

Weanling rats were given 2 mg. of 17-ß-estradiol benzoate at weekly intervals for 4 weeks. Twenty-four hours after each intraperitoneal injection of the estrogen 100 µc. of S35-sulfate or 11 µc. of Ca45 was similarly injected. The animals were sacrificed 24 hours after the last dose of isotopes. An effect of estradiol benzoate on calcium metabolism was deduced from the observation that the concentration of calcium in some tissues of the treated rats was higher than the concentration in the tissues of untreated rats. Alkaline extracts of the distal metaphyses of femurs from the estradiol-treated and from control rats, given S35-sulfate, were shown by chromatography on an anion exchange resin to contain from 9 to 22 per cent of the S35 as inorganic sulfate. From similar bone samples, 6 to 21 per cent of the S35 was removed by decalcification with sodium versenate. Most of the remaining S35 was associated with uronic acid and hexosamine; on paper chromatograms and paper electrophoretograms S35 was shown to be part of material which migrated and was metachromatic in the same way as purified chondroitin sulfate. Autoradiograms of the proximal ends of tibiae from the animals given estradiol benzoate showed that both the S35 and Ca45 were deposited in the metaphyses in strata. The arrangement of the strata of S35, however, was different from the arrangement of the strata of Ca45. This difference in arrangement is interpreted as indicating that most of the S35 in the metaphysis was derived from the chondroitin sulfate of the cartilage plate which the metaphysis had replaced.

The effects of the administration of normal human plasma to patients affected by mucopolysaccharidoses I and II (Hurler's and Hunter's syndromes) have been evaluated. The infusion was followed by a decreased urinary excretion of relatively large molecular weight glycosaminoglycans and by an increased excretion of their products of degradation. Among the latter, products of the degradation of dermatan sulfate and heparan sulfate could be demonstrated.The results indicate that normal human plasma may contain those “factors” that are involved in the normal degradation of dermatan sulfate and heparan sulfate, that are missing in the diseased states.