Mucopolysaccharidoses

Mucic acid [526-99-8] Mucoadhesives Muconic acid [505-70-4] Mucopolysaccharidoses Mucor circinelloides Mucor spp. [Pg.650]

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

Understanding of the degradative pathways for GAGs, as in the case of glycoproteins (Chapter 47) and glycosphingohpids (Chapter 24), has been gready aided by elucidation of the specific enzyme deficiencies that occur in certain inborn errors of metabolism. When GAGs are involved, these inborn errors are called mucopolysaccharidoses (Table 48—7). [Pg.545]

The mucopolysaccharidoses share a common mechanism of causation, as illustrated in Figure 48-10. They are inherited in an autosomal recessive manner, with Hurler and Hunter syndromes being perhaps the most widely studied. None are common. In some cases, a family history of a mucopolysaccharidosis is obtained. Specific laboratory investigations of help in their diagnosis are urine testing for the presence of increased... [Pg.545]

Table 48-7. Biochemical defects and diagnostic tests in mucopolysaccharidoses (MPS) and mucolipidoses (ML). ...

Mucopolysaccharidoses Hurler, Scheie, MPSI a-L-lduronidase Dermatan sulfate, heparan sulfate... [Pg.546]

The term mucolipidosis was introduced to denote diseases that combined features common to both mucopolysaccharidoses and sphingolipidoses (Chapter 24). Three mucolipidoses are listed in Table 48—7. In sialidosis (mucolipidosis I, ML-I), various oligosaccharides derived from glycoproteins and certain ganglio-sides can accumulate in tissues. I-cell disease (ML-II)... [Pg.546]

The GAGs are synthesized by the sequential actions of a battery of specific enzymes (glycosyltransferases, epimerases, suhotransferases, etc) and are degraded by the sequential action of lysosomal hydrolases. Genetic deficiencies of the latter result in mucopolysaccharidoses (eg, Hurler syndrome). [Pg.554]

Scriver CR et al (editors) The Metabolic and Molecular Bases of Inherited Disease, 8th ed. McGraw-Hill, 2001 (This comprehensive four-volume text contains chapters on disorders of collagen biosynthesis and structure, Marfan syndrome, the mucopolysaccharidoses, achondroplasia, Alport syndrome, and craniosynostosis syndromes.)... [Pg.555]

Neufeld, E. F. "Mucopolysaccharidoses" in "Antenatal Diagnosis", ed. A. Dorfman, University of Chicago Press, Chicago, 1972, 217-228. [Pg.93]

A 9-year-old boy is referred for evaluation of his hearing. A note from his school principal explains that he is inattentive in class. Initial physical examination indicates that he is at the 10th percentile for height, has coarse facial features, and is somewhat macrocephalic however, the remainder of the examination is within normal limits. Audiometry results confirm partial bilateral deafness, which is sensorineural in etiology. An IQ examination shows that he is in the 60th percentile for intelligence. Family history of mucopolysaccharidoses prompts specialty testing, which indicates elevated levels of dermatan sulfate and heparan sulfate in both a skin biopsy and urine sample. [Pg.181]

Berman ER, Vered J, Bach G (1971) A reliable spot test for mucopolysaccharidoses. Clin Chem 17 886-890... [Pg.321]

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, Hasselman JJF, Landeghem AAJ, Vader HL, Wevers RA (1991) The spot test is not a reliable screening procedure for mucopolysaccharidoses. Clin Chem 37 572-575... [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]

De Jong JGN, Heijs WM, Wevers RA (1994) Mucopolysaccharidoses screening dimethylene blue versus Alcian blue. Ann Clin Biochem 31 267-271... [Pg.322]

Dembure PP, Drumheller JE, Barr SM, Elsas LJ (1990) Selective urinary screening for mucopolysaccharidoses. Clin Biochem 23 91-96... [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]

Iwata S, Sukegawa K, Sasaki T, Kokuryu M, Yamasita S, Noma A, Iwasa S, Kondo N, Orii T (1997) Mass screening test for mucopolysaccharidoses using the 1,9-dimethylene blue method positive interference from paper diapers. Clin Chim Acta 264 245-250... [Pg.323]

Kaplan D (1969) Classification of the mucopolysaccharidoses based on the pattern of muco-polysacchariduria. Am J Med 47 721-729... [Pg.323]

Kresse H, Cantz M, von Figura K, Glossl J, Paschke E (1981) The mucopolysaccharidoses biochemistry and clinical symptoms. Klin Wochenschr 59 867-876... [Pg.323]

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