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December 1973

Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome): I. Sulfatase B Deficiency in Tissues

Author Affiliations

Denver; Boston; Denver
From the Division of Neurology, University of Colorado Medical Center, Denver (Drs. Stumpf and Austin and Ms. LaFrance), and the Department of Pediatrics, Children's Hospital Medical Center, Boston (Dr. Crocker).

Am J Dis Child. 1973;126(6):747-755. doi:10.1001/archpedi.1973.02110190597003

Sulfatase B activity was deficient in tissues from patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome; MPS VI). Liver, kidney, spleen, brain, and cultured fibroblasts all showed deficient activity. The sulfatase B deficiency was most evident in assays of pellet fractions. Sulfatase B activity was not reduced in the other mucopolysaccharidoses tested (types I, II, and III). The activities of control lysosomal enzymes (sulfatase A and acid phosphatase) were not reduced in MPS VI tissues.

The evidence suggests that a sulfatase B deficiency may underlie the biochemical abnormalities responsible for the MaroteauxLamy syndrome. The findings also lend credence to the view that sulfatase B normally plays a catabolic role as an O-sulfatase in the pathways of sulfated mucopolysaccharide metabolism. The possibility that oligosaccharide chondroitin sulfate B (dermatan sulfate) is a substrate for sulfatase B remains to be critically tested.

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