An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum

Doug A. Brooks; Gary J. Gibson; Litsa Karageorgos; Leanne K. Hein; Evelyn F. Robertson; John J. Hopwood

doi:10.1016/j.ymgme.2005.02.008

An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum

Doug A. Brooks, Gary J. Gibson, Litsa Karageorgos, Leanne K. Hein, Evelyn F. Robertson, John J. Hopwood

Research output: Contribution to journal › Article › peer-review

37 Citations (Scopus)

Abstract

Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, McKusick #253200) is a lysosomal storage disorder that is caused by a deficiency in the lysosomal exohydrolase N-acetylgalactosamine-4-sulphatase (4-sulphatase, EC 3.1.6.1). We report a patient with no obvious clinical signs of MPS VI that has 5% of normal 4-sulphatase catalytic capacity. This patient represents an index case for the attenuated end of the MPS VI clinical spectrum.

Original language	English
Pages (from-to)	236-238
Number of pages	3
Journal	Molecular Genetics and Metabolism
Volume	85
Issue number	3
DOIs	https://doi.org/10.1016/j.ymgme.2005.02.008
Publication status	Published or Issued - Jul 2005

Keywords

4-Sulphatase activity
4-Sulphatase protein
Attenuated clinical presentation
Lysosomal storage disorder
Mucopolysaccharidosis type VI

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

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10.1016/j.ymgme.2005.02.008

Cite this

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title = "An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum",

abstract = "Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, McKusick #253200) is a lysosomal storage disorder that is caused by a deficiency in the lysosomal exohydrolase N-acetylgalactosamine-4-sulphatase (4-sulphatase, EC 3.1.6.1). We report a patient with no obvious clinical signs of MPS VI that has 5% of normal 4-sulphatase catalytic capacity. This patient represents an index case for the attenuated end of the MPS VI clinical spectrum.",

keywords = "4-Sulphatase activity, 4-Sulphatase protein, Attenuated clinical presentation, Lysosomal storage disorder, Mucopolysaccharidosis type VI",

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AU - Brooks, Doug A.

AU - Gibson, Gary J.

AU - Karageorgos, Litsa

AU - Hein, Leanne K.

AU - Robertson, Evelyn F.

AU - Hopwood, John J.

PY - 2005/7

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AB - Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, McKusick #253200) is a lysosomal storage disorder that is caused by a deficiency in the lysosomal exohydrolase N-acetylgalactosamine-4-sulphatase (4-sulphatase, EC 3.1.6.1). We report a patient with no obvious clinical signs of MPS VI that has 5% of normal 4-sulphatase catalytic capacity. This patient represents an index case for the attenuated end of the MPS VI clinical spectrum.

KW - 4-Sulphatase activity

KW - 4-Sulphatase protein

KW - Attenuated clinical presentation

KW - Lysosomal storage disorder

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An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum

Abstract

Keywords

ASJC Scopus subject areas

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