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Mucopolysaccharidoses, glycosaminoglycans

Deficiencies of Enzymes That Degrade Glycosaminoglycans Result in Mucopolysaccharidoses... [Pg.545]

Byers S, Rozaklis T, Brumfield LK, Ranieri E, Hopwood JJ (1998) Glycosaminoglycan accumulation and excretion in the mucopolysaccharidoses characterization and basis of a diagnostic test for MPS. Mol Genet Metab 65 282-290... [Pg.322]

De Jong JGN, Wevers RA, Laarakkers C, Poorthuis BJHM (1989) Dimethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine a rapid screening procedure for mucopolysaccharidoses. Clin Chem 35 1472-1477... [Pg.322]

De Jong JGN, Wevers RA, Liebrand-van Sambeek R (1992) Measuring urinary glycosaminoglycans in the presence of protein an improved screening procedure for mucopolysaccharidoses based on dimethylene blue. Clin Chem 38 803-807... [Pg.322]

Dembure PP, Roesel RA (1991) Screening for mucopolysaccharidoses by analysis of urinary glycosaminoglycans. In Hommes FA (ed) Techniques in Diagnostic Human Biochemical Genetics. Wiley-Liss, New York, pp 77-86... [Pg.322]

Hochuli M, Wiithrich K, Steinmann (2003) Two-dimensional NMR spectroscopy of urinary glycosaminoglycans from patients with different mucopolysaccharidoses. NMR Biomed 16 224-236... [Pg.323]

Hopwood JJ, Harrison JR (1982) High-resolution electrophoresis of urinary glycosaminoglycans an improved screening test for the mucopolysaccharidoses. Anal Biochem 119 120-127... [Pg.323]

Huang K, Sukegawa K, Orii T (1985) Screening test for urinary glycosaminoglycans and differentiation of various mucopolysaccharidoses. Clin Chim Acta 151 147-156... [Pg.323]

Pennock CA (1976) A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of the mucopolysaccharidoses. J Clin Pathol 29 111-123... [Pg.324]

Piraud M, Boyer M, Mathieu M, Maire I (1993) Diagnosis of mucopolysaccharidoses in a clinically selected population by urinary glycosaminoglycan analysis a study of 2000 urine samples. Clin Chim Acta 221 171-181... [Pg.324]

Degradation of the glycosaminoglycan heparan sulfate by lysosomal enzymes, indicating sites of enzyme deficiencies in some representative mucopolysaccharidoses. [Pg.162]

Analysis of urine for excess substrates (e.g., glycosaminoglycans in the Mucopolysaccharidoses, globotriaolsylceramide in Fabry disease) may also suggest the presence of an LSD. In any case, all patients suspected to have an LSD should have diagnostic confirmation by means of biochemical and/or molecular genetic analysis. [Pg.791]

Mucopolysaccharidoses occur when there is a genetic deficiency of the enzymes involved in the lysosomal breakdown of the glycosaminoglycans. [Pg.270]

Mucopolysaccharidoses This group of disorders is characterized by tissue accumulation of glycosaminoglycans such as heparin sulphate and dermatan sulphate. This results in skeletal deformities, mental retardation and premature death... [Pg.63]

In the clinical disorder known as the mucopolysaccharidoses (caused by accumulation of partially degraded glycosaminoglycans), deformities of the skeleton may occur (Table 49.4). Mental retardation often accompanies these skeletal changes. [Pg.915]

C24. Constantopoulos, G., Loiue, M., and Dekaban, A. S., Add mucopolysaccharides (glycosaminoglycans) in normal human kidneys and in kidneys of patients with mucopolysaccharidoses. Biochem. Med. 7, 376-388 (1973). [Pg.81]

Lll. Lewis, P. W., Raine, D. N., and Kermedy, J. F., Recognition of the mucopolysaccharidoses by four screening tests, including a refinement of the albumin turbidity test, and their differentiation by electrophoretic separation of urinary glycosaminoglycans. Ann. Clin. Biochem. 11, 67-71 (1974). [Pg.90]

This chapter deals with the inborn errors of catabolism (degradation) of mucopolysaccharides (or the new term glycosaminoglycans). The mucopolysaccharidoses are a group of heritable disorders of man that are characterized by acciunulation of glycosaminoglycans in the lysosomes of all cells of the body (except red blood cells) and increased excretion in the urine. [Pg.377]

The Sly syndrome is similar in clinical features to that of the mucopolysaccharidosis type I disorders. Patients have unusual facies, depressed nasal bridge, prominent maxillae, and anteverted nostrils. By 2.5 years of age, developmental retardation is observed. Several cases of jff-glucuronidase deficiency have been reported in newborns with non-immune hydrops fetalis. Urinary excretion of glycosaminoglycans are elevated and variable [1]. The prevalence of Sly syndrome is estimated at 1 in 2,111,000, the rarest of all mucopolysaccharidoses [2]. [Pg.379]

Heparan sulfates have the most complex structure of the glycosaminoglycan substrates involved in mucopolysaccharidoses. At least eight lysosomal enzymes take part in the complete digestion of this class of polysaccharide that proceeds to monosaccharides and sulfate in the sequence of enzymatic steps shown in Figure 1 ... [Pg.2040]

See other pages where Mucopolysaccharidoses, glycosaminoglycans is mentioned: [Pg.483]    [Pg.787]    [Pg.483]    [Pg.787]    [Pg.535]    [Pg.477]    [Pg.161]    [Pg.168]    [Pg.164]    [Pg.237]    [Pg.313]    [Pg.373]    [Pg.2]    [Pg.14]    [Pg.905]    [Pg.57]    [Pg.90]    [Pg.333]    [Pg.221]    [Pg.58]    [Pg.380]    [Pg.299]    [Pg.302]    [Pg.302]    [Pg.2039]   


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Glycosaminoglycan

Glycosaminoglycanes

Glycosaminoglycans

Mucopolysaccharidose

Mucopolysaccharidoses

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