title: Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.
abstract: OBJECTIVE
  To assess clinical features and general health status of adult patients with mucopolysaccharidosis (MPS) VI.
  
  
  METHODS
  This report includes the clinical history of patients older than 18 years with slowly progressing MPS VI and the retrospective analysis of the outcomes of available data collected between September 2003 and October 2008 at the Center of Pediatric and Adolescent Medicine, University Medical Center, Johannes Gutenberg-University of Mainz, Germany. Variables included were urinary glycosaminoglycan (uGAG) level, mutation analysis, body height, forced vital capacity (FVC), 6-minute walk test, echocardiographic findings, the need for craniocervical decompression surgery, orthopaedic findings and ophthalmological assessments.
  
  
  RESULTS
  The analysis included nine patients with MPS VI aged 19-29 years. The median age at diagnosis was 12 (range 6-20) years. At the time of the assessment (median age 25 years), median uGAG was 29 (range 15-149) μg/mg creatinine and median height 152 (range 136-161) cm. All patients had a FVC below standard values, seven showed reduced endurance in the 6-minute-walk test, all had valve changes with valve replacement in three, two underwent craniocervical decompression surgery, two underwent carpal tunnel surgery, five had ear/nose/throat (ENT) interventions, seven had hip pain/dysplasia, seven had corneal clouding and two were visually impaired.
  
  
  CONCLUSIONS
  Although patients with slowly progressing MPS VI are a heterogeneous group showing disease manifestations in several organs, they seem to have some typical characteristics in common. Despite the attenuated clinical course, many of these patients show severe morbidity. Therefore, early diagnosis and proper follow-up and treatment are essential.
authors.affiliation: Department of Psychiatry, University of Mainz, Mainz, Germany.
authors.forename: Anke
authors.initials: A
authors.lastname: Thümler
authors.forename: Elke
authors.initials: E
authors.lastname: Miebach
authors.forename: Christina
authors.initials: C
authors.lastname: Lampe
authors.forename: Susanne
authors.initials: S
authors.lastname: Pitz
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Kamin
authors.forename: Christoph
authors.initials: C
authors.lastname: Kampmann
authors.forename: Bianca
authors.initials: B
authors.lastname: Link
authors.forename: Eugen
authors.initials: E
authors.lastname: Mengel
mesh_terms: D000328:Adult; D017668:Age of Onset; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D005858:Germany; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D008297:Male; D009087:Mucopolysaccharidosis VI / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000235:genetics; D010641:Phenotype; D055815:Young Adult
chemical_list: D006025:Glycosaminoglycans; D020051:N-Acetylgalactosamine-4-Sulfatase