title: Biomarkers of bone remodeling in children with mucopolysaccharidosis types I, II, and VI.
abstract: OBJECTIVE
  Skeletal disease causes significant morbidity in mucopolysaccharidoses (MPS), and bone remodeling processes in MPS have not been well characterized. The objective of this study was to determine if biomarkers of bone turnover are abnormal in children with specific MPS disorders (i.e. MSP-I, MPS-II, and MPS-VI) compared to healthy children.
  
  
  METHODS
  A cross-sectional study was performed of serum biomarkers of bone formation (bone-specific alkaline phosphatase [BSAP], osteocalcin) and urine biomarkers of bone resorption (pyridinoline, deoxypyridinoline) in MPS and healthy controls. Measures of physical function and pain were obtained using the Children's Health Questionnaire (CHQ).
  
  
  RESULTS
  The cohort consisted of 39 children with MPS (MPS-I=26; MPS-II=11; MPS-VI=4) and 51 healthy children. Adjusting for sex and Tanner stage group, MPS individuals had statistically significant increases for osteocalcin (p< 0.001), with trends toward higher BSAP (p=0.054) and urinary pyridinoline (p=0.084). These biomarkers were not significantly associated with CHQ bodily pain and physical-function scores.
  
  
  CONCLUSIONS
  Osteocalcin was increased in children with MPS disorders, with trends for increases in BSAP and urinary pyridinoline, suggesting that bone remodeling is altered in children with MPS. Future studies to assess the ability of these biomarkers to quantify and monitor MPS skeletal disease in response to therapy are needed.
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.
authors.forename: David A
authors.initials: DA
authors.lastname: Stevenson
authors.affiliation: Division of Biostatistics, University of Minnesota, Minneapolis, MN, USA.
authors.forename: Kyle
authors.initials: K
authors.lastname: Rudser
authors.affiliation: Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
authors.forename: Alicia
authors.initials: A
authors.lastname: Kunin-Batson
authors.affiliation: Children's Hospital and Research Center, Oakland, CA, USA.
authors.forename: Ellen B
authors.initials: EB
authors.lastname: Fung
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.
authors.forename: David
authors.initials: D
authors.lastname: Viskochil
authors.affiliation: Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
authors.forename: Elsa
authors.initials: E
authors.lastname: Shapiro
authors.affiliation: Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Orchard
authors.affiliation: Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
authors.forename: Chester B
authors.initials: CB
authors.lastname: Whitley
authors.affiliation: Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
authors.forename: Lynda E
authors.initials: LE
authors.lastname: Polgreen
mesh_terms: D000293:Adolescent; D000469:Alkaline Phosphatase / Q000097:blood; D000596:Amino Acids / Q000652:urine; D015415:Biomarkers / Q000032:analysis; D016723:Bone Remodeling / Q000502:physiology*; D016022:Case-Control Studies; D002648:Child; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D008297:Male; D008059:Mucopolysaccharidosis I / Q000150:complications / Q000378:metabolism*; D016532:Mucopolysaccharidosis II / Q000150:complications / Q000378:metabolism*; D009087:Mucopolysaccharidosis VI / Q000150:complications / Q000378:metabolism*; D015675:Osteocalcin / Q000097:blood; D010146:Pain / Q000209:etiology; D011795:Surveys and Questionnaires
chemical_list: D000596:Amino Acids; D015415:Biomarkers; D015675:Osteocalcin; C015484:pyridinoline; C036020:deoxypyridinoline; D000469:Alkaline Phosphatase
keywords: Bone; dysostosis multiplex; lysosomal storage diseases; mucopolysaccharidosis
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