What is Multiple Sulfatase Deficiency?
Multiple Sulfatase Deficiency (MSD) is a lysosomal storage disorder closely related to the mucopolysaccharidoses in which all twelve of the known sulfatase enzymes are deficient or inoperative. MSD may also be called Austin's disease. There is currently no cure for individuals with MSD.
What causes MSD?
MSD is caused by the deficiency of an enzyme, Formylglycine Generating Enzyme (FGE) that is in turn responsible for activating a group of different enzymes called sulfatases. Deficiency of this enzyme results in defective functioning of all the different sulfatases. The sulfatases are a group of lysosomal enzymes that are responsible for breaking down and thus recycling complex sulphate containing sugars from both lipids and mucopolysaccharides. The lipids that contain these sulfated sugars are critical for normal brain development and function. Individuals affected with MSD experience similar problems as children affected with leucodystrophy and mucopolysaccharidosis.
This is an excerpt taken from the MPS Society as listed below. Additional information is available at http://www.mpssociety.co.uk/uploads/MSD_factsheet.pdf.
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