Induced Degradation of Glycosaminoglycans in Hurler's and Hunter's Syndromes by Plasma Infusion

Ferrante, Nicola Di; Nichols, Buford L.; Donnelly, Patricia V.; Neri, Giovanni; Hrgovcic, Ruzica; Berglund, R. K.

doi:10.1073/pnas.68.2.303

Cited by 150 publications

(38 citation statements)

References 33 publications

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“…These observations initiated a number of therapeutic trials to improve the clinical picture by infusions of whole blood (11), plasma (11)(12)(13)(14)(15)(16), serum (17) or leukocytes (18). Contradictory results were reported.…”

Section: Discussionmentioning

confidence: 96%

Serum α-N-acetylglucosaminidase: Determination, Characterization, and Corrective Activity in Sanfilippo B Fibroblasts

Figura¹,

Lögering²,

Kresse³

1975

Clinical Chemistry and Laboratory Medicine

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Summary: Assays for the determination of serum -N-acetylglucosaminidase (EC 3.2.1.50) activity are described employing p-nitrophenyl-N-acetyl-a-D-glucosaminide, phenyl-N-acetyl-a-.D-glucosaminide, and UDP-N-acetylglucosamine as substrates. A log normal distribution of the serum enzyme activity was found. The determination of serum -N-acetylglucosaminidase activity proved to be a valuable tool for the recognition of homozygous and heterozygous carriers of the Sanfilippo B gene.The enzyme was characterized with regard to its pH optimum, K m , isoelectric point, and the influence of several bivalent cations was studied.Serum -N-acetylglucosaminidase was added to Sanfilippo B fibroblast cultures, which are deficient in this enzyme. This resulted in an intracellular enzyme level, which was one twelvth of that found after addition of an equal amount of enzyme derived from human urine. The pinocytosed serum enzyme, however, exhibited the same corrective activity towards the accumulated heparan sulfate as the urinary enzyme.

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Section: Discussionmentioning

confidence: 96%

Serum α-N-acetylglucosaminidase: Determination, Characterization, and Corrective Activity in Sanfilippo B Fibroblasts

Figura¹,

Lögering²,

Kresse³

1975

Clinical Chemistry and Laboratory Medicine

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“…The use of testicular hyaluronidase allows their depolymerization in the presence of dermatan sulphate, but it is of little advantage when the dermatan sulphate to be measured is of small molecular weight and not precipitable with ethanol. Thus enzymic methods could not measure degradation products of dermatan sulphate in the presence of degradation products of other glycosaminoglycans (Di Ferrante et al 1971). When used in conjunction with the method of Lagunoff & Warren (1962) for the determination of sulphoaminohexose, this modification of the periodate-Schiff reaction allows a simple and rapid screening of purified urinary glycosaminoglycans obtained from patients with mucopolysaccharidoses.…”

Section: Resultsmentioning

confidence: 99%

Colorimetric measurement of dermatan sulphate

Ferrante

Donnelly

Berglund

1971

Biochemical Journal

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The periodate-Schiff reaction has been adapted for the measurement of dermatan sulphate. The method is specific for this glycosaminoglycan, provided that glycogen and glycoproteins are removed. Measurements of dermatan sulphate present in the urine of patients affected by various mucopolysaccharidoses indicate a good agreement between the values obtained with enzymic methods and those obtained with the colorimetric method described.

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“…Short-term increases in the catabolism of glycosaminoglycans have been produced in a number of patients with different forms of mucopolysaccharidosis (Hunter's, Hurler's, and the Sanfilippo syndromes) when given infusions of normal plasma (2)(3)(4)(5) or leukocytes (6) as a means of enzyme replacement. In contrast, Dekaban et al (7) and Erickson et al (8) found that infusions of plasma or whole blood had little effect on patients with Hunter's, Hurler's, and Sanfilippo's syndromes, whereas Moser et al.…”

Section: Introductionmentioning

confidence: 99%

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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Induced Degradation of Glycosaminoglycans in Hurler's and Hunter's Syndromes by Plasma Infusion

Cited by 150 publications

References 33 publications

Serum α-N-acetylglucosaminidase: Determination, Characterization, and Corrective Activity in Sanfilippo B Fibroblasts

Serum α-N-acetylglucosaminidase: Determination, Characterization, and Corrective Activity in Sanfilippo B Fibroblasts

Colorimetric measurement of dermatan sulphate

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

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