source: Clinical chemistry and laboratory medicine

year: 2022

authors: Goudji CW,Schick T,Cherkaoui S,Camaiani M,Dewulf JP,Nassogne MC,Chevalier C

Sly disease, described by William Sly in 1973, belongs tothe group of rare inborn errors of glycosaminoglycan(GAGs) catabolism called mucopolysaccharidosis (MPS). The MPS are lysosomal storage disorders (LSDs) char-acterized by an accumulation of partially degraded GAGsin cells, blood, urine and connective tissue following adeficiency of specific lysosomal enzymes. To date,several types are described depending on the enzymedeficiency. MPS type VII (MPS-VII) or Sly disease is causedby beta-glucuronidase deficiency (GUS:β-D-glucuronosideglucuronosohydrolase, Enzyme Commission (EC) number:3.2.1.31; GUSB: MIM 611499).

In the absence of GUS,chondroitin sulfate, dermatan sulfate and heparin sulfateare only partially degraded and the fragments accumulatein the lysosomes of many tissues, leading to cellular andorgan dysfunction. MPS-VII is an ultra-rare disorder and precise epidemiological data on the prevalence and inci-dence are scarce.

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