title: Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene.
abstract: We describe the case of a boy recently diagnosed with an attenuated form of mucopolysacchararidosis VI (MPS VI, Maroteaux-Lamy syndrome). The Y210C mutation has not been described previously in the homozygous state, although this is a common ARSB mutation. His phenotype is essentially musculoskeletal. Urine screening tests based on measuring total GAG may miss this presentation as total GAGs were not elevated in the patient (although the electrophoresis pattern was clearly abnormal). In this phenotype the benefit of ERT remains to be established.
authors.affiliation: Genetic Medicine, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL.
authors.forename: I
authors.initials: I
authors.lastname: Gottwald
authors.forename: J
authors.initials: J
authors.lastname: Hughes
authors.forename: F
authors.initials: F
authors.lastname: Stewart
authors.forename: K
authors.initials: K
authors.lastname: Tylee
authors.forename: H
authors.initials: H
authors.lastname: Church
authors.forename: S A
authors.initials: SA
authors.lastname: Jones
mesh_terms: D000293:Adolescent; D006720:Homozygote; D006801:Humans; D008297:Male; D009087:Mucopolysaccharidosis VI / Q000000981:diagnostic imaging / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000235:genetics*; D010641:Phenotype; D011859:Radiography
chemical_list: D020051:N-Acetylgalactosamine-4-Sulfatase