I-cell disease

Doug Brooks; Chris Turner; Viv Muller; John J. Hopwood; Peter Meikle

doi:10.1007/978-0-387-70909-3_33

I-cell disease

Doug Brooks, Chris Turner, Viv Muller, John J. Hopwood, Peter Meikle

Research output: Chapter in Book/Report/Conference proceeding › Chapter (Book) › Other › peer-review

1 Citation (Scopus)

Abstract

The lysosomal storage disorders (LSD), I-cell disease (mucolipidosis type II, ML II), and mucolipidosis type III (ML III) represent the severe and attenuated phenotypes resulting from the dysfunction of N-acetylglucosamine 1-phosphotransferase. Like other LSD, these disorders can present with a spectrum of clinical phenotypes. However, unlike other LSD these two disorders are genetically distinct, affecting different gene products (subunits) of the same N-acetylglucosamine 1-phosphotransferase enzyme. This chapter gives a brief overview of the disorder, how it has been diagnosed, together with the molecular cause and its impact on lysosomal biogenesis. Potential treatment strategies for patients with I-cell disease are also discussed.

Original language	English
Title of host publication	Lysosomal Storage Disorders
Publisher	Humana Press
Pages	529-537
Number of pages	9
ISBN (Electronic)	9780387709093
ISBN (Print)	9780387709086
DOIs	https://doi.org/10.1007/978-0-387-70909-3_33
Publication status	Published - 2007
Externally published	Yes

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10.1007/978-0-387-70909-3_33

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title = "I-cell disease",

abstract = "The lysosomal storage disorders (LSD), I-cell disease (mucolipidosis type II, ML II), and mucolipidosis type III (ML III) represent the severe and attenuated phenotypes resulting from the dysfunction of N-acetylglucosamine 1-phosphotransferase. Like other LSD, these disorders can present with a spectrum of clinical phenotypes. However, unlike other LSD these two disorders are genetically distinct, affecting different gene products (subunits) of the same N-acetylglucosamine 1-phosphotransferase enzyme. This chapter gives a brief overview of the disorder, how it has been diagnosed, together with the molecular cause and its impact on lysosomal biogenesis. Potential treatment strategies for patients with I-cell disease are also discussed.",

author = "Doug Brooks and Chris Turner and Viv Muller and Hopwood, {John J.} and Peter Meikle",

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AU - Brooks, Doug

AU - Turner, Chris

AU - Muller, Viv

AU - Hopwood, John J.

AU - Meikle, Peter

N1 - Funding Information: The authors thank Audrey Iljin for useful discussions and assistance. The research was supported inpat bry Grant No. U5 W200 from the International Science Foundation and by Grant GR/J88111 from EPSRC (U.K.). Publisher Copyright: © 2007 Springer Science+Business Media, LLC. All rights reserved.

PY - 2007

Y1 - 2007

N2 - The lysosomal storage disorders (LSD), I-cell disease (mucolipidosis type II, ML II), and mucolipidosis type III (ML III) represent the severe and attenuated phenotypes resulting from the dysfunction of N-acetylglucosamine 1-phosphotransferase. Like other LSD, these disorders can present with a spectrum of clinical phenotypes. However, unlike other LSD these two disorders are genetically distinct, affecting different gene products (subunits) of the same N-acetylglucosamine 1-phosphotransferase enzyme. This chapter gives a brief overview of the disorder, how it has been diagnosed, together with the molecular cause and its impact on lysosomal biogenesis. Potential treatment strategies for patients with I-cell disease are also discussed.

AB - The lysosomal storage disorders (LSD), I-cell disease (mucolipidosis type II, ML II), and mucolipidosis type III (ML III) represent the severe and attenuated phenotypes resulting from the dysfunction of N-acetylglucosamine 1-phosphotransferase. Like other LSD, these disorders can present with a spectrum of clinical phenotypes. However, unlike other LSD these two disorders are genetically distinct, affecting different gene products (subunits) of the same N-acetylglucosamine 1-phosphotransferase enzyme. This chapter gives a brief overview of the disorder, how it has been diagnosed, together with the molecular cause and its impact on lysosomal biogenesis. Potential treatment strategies for patients with I-cell disease are also discussed.

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BT - Lysosomal Storage Disorders

PB - Humana Press

ER -

I-cell disease

Abstract

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