TY - CHAP
T1 - The Mucopolysaccharidoses
AU - Matalon, Reuben
AU - Michals Matalon, Kimberlee
AU - Radhakrishnan, Geetha L.
N1 - Funding Information:
The present study was carried out at the Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain, under the following grant support: Instituto de Salud Carlos III PI020499 , PI050427 , PI060507 , Plan Nacional de Drogas Research Grant 2005— Orden sco/3246/2004 , SENY Fundació Research Grant CI 2005-0308007 and Fundación Marqués de Valdecilla API07/011 . The Instituto de Salud Carlos III, the Plan Nacional de Drogas, the SENY Fundació and the Fundación Marqués de Valdecilla had no further role in the study design; in the collection, analysis and interpretation of data; in the writing of the report; and in the decision to submit the paper for publication.
Publisher Copyright:
© 2015 Elsevier Inc. All rights reserved.
PY - 2014/11/13
Y1 - 2014/11/13
N2 - The mucopolysaccharidoses are a group of inherited disorders caused by specific enzyme deficiencies in the degradation of the glycosaminoglycans (mucopolysaccharides). Enzyme deficiencies result in the accumulation of glycosaminoglycans in lysosomes of various tissues and in the excessive excretion of partially degraded glycosaminoglycans in urine. Clinical manifestations of the mucopolysaccharidoses depend on the specific enzyme deficiency, the end organ affected, and the accumulation of glycosaminoglycans in the affected organs. In diseases in which the brain is not involved, there is no mental retardation. On the other hand, if the brain is affected and other somatic manifestations are minimal, the coarse features that are characteristic of the mucopolysaccharidoses are not as prominent. Specific degradative lysosomal enzyme deficiencies have been identified for all the mucopolysaccharidoses. The glycosaminoglycans that are stored and excreted in the urine of the various mucopolysaccharidoses are dermatan sulfate, heparan sulfate, keratan sulfate, and chondroitin 4/6 sulfates.
AB - The mucopolysaccharidoses are a group of inherited disorders caused by specific enzyme deficiencies in the degradation of the glycosaminoglycans (mucopolysaccharides). Enzyme deficiencies result in the accumulation of glycosaminoglycans in lysosomes of various tissues and in the excessive excretion of partially degraded glycosaminoglycans in urine. Clinical manifestations of the mucopolysaccharidoses depend on the specific enzyme deficiency, the end organ affected, and the accumulation of glycosaminoglycans in the affected organs. In diseases in which the brain is not involved, there is no mental retardation. On the other hand, if the brain is affected and other somatic manifestations are minimal, the coarse features that are characteristic of the mucopolysaccharidoses are not as prominent. Specific degradative lysosomal enzyme deficiencies have been identified for all the mucopolysaccharidoses. The glycosaminoglycans that are stored and excreted in the urine of the various mucopolysaccharidoses are dermatan sulfate, heparan sulfate, keratan sulfate, and chondroitin 4/6 sulfates.
KW - Coarse facial features
KW - Dysostosis multiplex
KW - Glycosaminoglycans
KW - Hepatosplenomegaly
KW - Multiple sulfatase
KW - Stiff joints
KW - α-L-Iduronidase
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U2 - 10.1016/B978-0-12-410529-4.00031-0
DO - 10.1016/B978-0-12-410529-4.00031-0
M3 - Chapter
AN - SCOPUS:84943231128
SN - 9780124105492
SP - 347
EP - 363
BT - Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
PB - Elsevier Inc.
ER -