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

David A. Stumpf, James H. Austin*, Allen C. Crocker, Marie Lafrance

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

71 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)747-755
Number of pages9
JournalAmerican Journal of Diseases of Children
Volume126
Issue number6
DOIs
StatePublished - Dec 1973

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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