Affiliations: Department of Pediatrics, Division of Medical
Genetics, University of Utah, Salt Lake City, UT, USA | Division of Biostatistics, University of Minnesota,
Minneapolis, MN, USA | Department of Pediatrics, University of Minnesota,
Minneapolis, MN, USA | Children's Hospital and Research Center, Oakland, CA,
USA
Note: [] Corresponding author: David A. Stevenson, Division of Medical
Genetics, University of Utah, 2C412 SOM, SLC, UT 84132, USA. Tel.: +1 801 581
8943; Fax: +1 801 585 7252; E-mail: david.stevenson@hsc.utah.edu
Abstract: PURPOSE: 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. CONCLUSION: 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.
