Hunter's syndrome: A deficiency of L-idurono-sulfate sulfatase

Sjöberg, Ingrid; Fransson, Lars Ake; Matalon, Reuben; Dorfman, Albert

doi:10.1016/0006-291x(73)90809-7

Cited by 80 publications

(21 citation statements)

References 15 publications

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“…1), which was consistent with the removal of sulfate from the terminal nonreducing iduronic acid of partially degraded dermatan and heparan sulfates by idurono-sulfate sulfatase (32)(33)(34). The action of idurono-sulfate sulfatase would then enable free iduronic acid to be released.…”

Section: +19supporting

confidence: 66%

Enzyme replacement therapy by fibroblast transplantation: long-term biochemical study in three cases of Hunter's syndrome.

Dean¹,

Stevens²,

Muir³

et al. 1979

J. Clin. Invest.

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A B S T R A C T We have assessed the effectiveness of transplanted histocompatible fibroblasts as a long-lived source of lysosomal enzymes for replacement therapy in three patients with Hunter's syndrome, over periods ranging from 2.5 to 3.75 yr. The level of Hunter corrective factor excreted by all three patients increased after transplantation, as did the activity of a-L-idurono-2-sulfate sulfatase in serum, when measured directly with a radioactive disulfated disaccharide substrate. Sulfatase activity was also raised in leukocyte homogenates from the two patients that we were able to assess. These increases in enzyme activity were accompanied by corresponding increases in catabolism of heparan and dermatan sulfates, as shown by (a) a decrease in sulfate:uronic ratios of urinary oligosaccharides, (b) an increase in iduronic acid monosaccharide, and (c) a normalization of Bio-Gel P-2 gel filtration profiles. Both the increase in enzyme activity and increased catabolism were maintained during the period of study and were not affected by either a gradual decrease or total withdrawal of immunosuppressive therapy.

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Section: +19supporting

confidence: 66%

Enzyme replacement therapy by fibroblast transplantation: long-term biochemical study in three cases of Hunter's syndrome.

Dean¹,

Stevens²,

Muir³

et al. 1979

J. Clin. Invest.

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“…Cultures of fibroblasts from patients do not degrade these polymers, but they can be "cured" by the Hunter Factor present in normal cells and nrine. This factor has been shown to be a snlphoiduronate suiphatase (Bacb et al, 1973;Sjoberg et a/., 1973) which seems to be distinct from any of the known aryl sulpbatases. Now tluit a method is available for the assay of this enzyme (Lim et fl/., 1974), it is lioped that more information will soon be available.…”

Section: Hunter Sijmlronie: Mucopohjsaccharidosis Ilmentioning

confidence: 99%

Sulphatases, Lysosomes and Disease

1976

Aust J Exp Biol Med

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“…Thus, following these different and complementary approaches, the enzyme deficiencies responsible for the impaired degradation of dennatan sulfate andlor heparan sulfate (DS, HS) which occurs in HurlerIScheie (3.27.40). Hunter (2,36), Sanfilippo A (20) and Bglucuronidase deficiency (17) diseases were identified. Subsequently, the enzyme deficiencies occurring in Sanfilippo B (29) and Maroteaux-Lamy (37) diseases have also been identified.…”

Section: Methodsmentioning

confidence: 99%

N-Acetylglucosamine-6-Sulfate Sulfatase in Man: Deficiency of the Enzyme in a New Mucopolysaccharidosis

et al. 1978

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SummaryThe study of a I y e a r old patient with a mucopolysaccharidosis different from those already known has given the opportunity to describe the clinical, biochemical and enzymic characteristics of N-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 verv blond. but coarse and excessive hair. He had mild hepatosplknomegaly and dysostosis multiplex, including hypoplastic odontoid Drocess of the atlas. ovoid vertebral bodies, small femoral epiphyses; and modest enlaigement 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 35S04-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. Galactose-6-sulfate (Gal&S), N-acetylgalactosamine-6-sulfate (GalNAc-6-S), and N-acetylglucosamine-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.

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Hunter's syndrome: A deficiency of L-idurono-sulfate sulfatase

Cited by 80 publications

References 15 publications

Enzyme replacement therapy by fibroblast transplantation: long-term biochemical study in three cases of Hunter's syndrome.

Enzyme replacement therapy by fibroblast transplantation: long-term biochemical study in three cases of Hunter's syndrome.

Sulphatases, Lysosomes and Disease

N-Acetylglucosamine-6-Sulfate Sulfatase in Man: Deficiency of the Enzyme in a New Mucopolysaccharidosis

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