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

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

Doug A Brooks  1 , Gary J Gibson, Litsa Karageorgos, Leanne K Hein, Evelyn F Robertson, John J Hopwood
Affiliations
Case Reports

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

Doug A Brooks et al. Mol Genet Metab. 2005 Jul.

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.

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