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

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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 languageEnglish
Pages (from-to)236-238
Number of pages3
JournalMolecular Genetics and Metabolism
Volume85
Issue number3
DOIs
Publication statusPublished 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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