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

Mol Genet Metab. 2005 Jul;85(3):236-8. doi: 10.1016/j.ymgme.2005.02.008. Epub 2005 Mar 24.

Authors

Doug A Brooks¹, Gary J Gibson, Litsa Karageorgos, Leanne K Hein, Evelyn F Robertson, John J Hopwood

Affiliation

¹ Lysosomal Diseases Research Unit, Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, SA 5006, Australia. douglasbrooks@adelaide.edu.au

PMID: 15979036
DOI: 10.1016/j.ymgme.2005.02.008

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
DNA Mutational Analysis
Female
Humans
Lysosomes / metabolism
Mucopolysaccharidoses / metabolism*
Mucopolysaccharidosis VI / genetics
Mucopolysaccharidosis VI / metabolism*
Mutation, Missense
N-Acetylgalactosamine-4-Sulfatase / metabolism*

Substances

N-Acetylgalactosamine-4-Sulfatase