Mucopolysaccharidoses

K. Michals Matalon; R. Matalon

doi:10.1016/B978-0-12-385157-4.00105-6

Mucopolysaccharidoses

K. Michals Matalon, R. Matalon

Pediatrics

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

The mucopolysaccharidoses (MPS) are a group of inherited disorders caused by specific enzyme deficiencies in the degradation of glycosaminoglycans. Glycosaminoglycans accumulate in lysosomes, and partially degraded glycosaminoglycans are excreted in urine. Clinical features depend on the specific enzyme deficiency, the organs affected, and the accumulation of glycosaminoglycans in the affected organs. Some of the enzyme deficiencies affect the brain, leading to mental retardation. The storage of glycosaminoglycans leads to coarse facial features and abnormalities in the connective tissue and bones. Currently, the MPS are subject for clinical trials using enzyme therapy.

Original language	English (US)
Title of host publication	Encyclopedia of the Neurological Sciences
Publisher	Elsevier Inc.
Pages	135-138
Number of pages	4
ISBN (Electronic)	9780123851574
ISBN (Print)	9780123851581
DOIs	https://doi.org/10.1016/B978-0-12-385157-4.00105-6
State	Published - Jan 1 2014

Keywords

Glycosaminoglycans
Hunter syndrome MPS II
Hurler syndrome MPS I
Lysosomal storage
Maroteaux-Lamy syndrome MPS VI
Morquio syndrome MPS IV
Multiple sulfatase
Sanfilippo syndromes MPS III
Scheie syndrome
Sly disease MPS VII

ASJC Scopus subject areas

General Medicine

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10.1016/B978-0-12-385157-4.00105-6

Cite this

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title = "Mucopolysaccharidoses",

abstract = "The mucopolysaccharidoses (MPS) are a group of inherited disorders caused by specific enzyme deficiencies in the degradation of glycosaminoglycans. Glycosaminoglycans accumulate in lysosomes, and partially degraded glycosaminoglycans are excreted in urine. Clinical features depend on the specific enzyme deficiency, the organs affected, and the accumulation of glycosaminoglycans in the affected organs. Some of the enzyme deficiencies affect the brain, leading to mental retardation. The storage of glycosaminoglycans leads to coarse facial features and abnormalities in the connective tissue and bones. Currently, the MPS are subject for clinical trials using enzyme therapy.",

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AB - The mucopolysaccharidoses (MPS) are a group of inherited disorders caused by specific enzyme deficiencies in the degradation of glycosaminoglycans. Glycosaminoglycans accumulate in lysosomes, and partially degraded glycosaminoglycans are excreted in urine. Clinical features depend on the specific enzyme deficiency, the organs affected, and the accumulation of glycosaminoglycans in the affected organs. Some of the enzyme deficiencies affect the brain, leading to mental retardation. The storage of glycosaminoglycans leads to coarse facial features and abnormalities in the connective tissue and bones. Currently, the MPS are subject for clinical trials using enzyme therapy.

KW - Glycosaminoglycans

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KW - Hurler syndrome MPS I

KW - Lysosomal storage

KW - Maroteaux-Lamy syndrome MPS VI

KW - Morquio syndrome MPS IV

KW - Multiple sulfatase

KW - Sanfilippo syndromes MPS III

KW - Scheie syndrome

KW - Sly disease MPS VII

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BT - Encyclopedia of the Neurological Sciences

PB - Elsevier Inc.

ER -

Mucopolysaccharidoses

Abstract

Keywords

ASJC Scopus subject areas

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