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

نویسندگان

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

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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عنوان ژورنال:
  • Molecular genetics and metabolism

دوره 85 3  شماره 

صفحات  -

تاریخ انتشار 2005