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

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 t...

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Bibliographic Details
Published in:Molecular genetics and metabolism 2005-07, Vol.85 (3), p.236-238
Main Authors: Brooks, Doug A., Gibson, Gary J., Karageorgos, Litsa, Hein, Leanne K., Robertson, Evelyn F., Hopwood, John J.
Format: Article
Language:English
Subjects:
4-Sulphatase activity
4-Sulphatase protein
Adult
Attenuated clinical presentation
DNA Mutational Analysis
Female
Humans
Lysosomal storage disorder
Lysosomes - metabolism
Mucopolysaccharidoses - metabolism
Mucopolysaccharidosis type VI
Mucopolysaccharidosis VI - genetics
Mucopolysaccharidosis VI - metabolism
Mutation, Missense
N-Acetylgalactosamine-4-Sulfatase - metabolism
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Summary: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.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2005.02.008