title: Bone density assessment in patients with mucopolysaccharidosis: A preliminary report from patients with MPS II and VI.
abstract: Enzyme replacement therapy has been successful in alleviating morbidity and improving endurance in Mucopolysaccharidosis (MPS) type I, II, and VI, however little attention has been paid to the effects on bone mineralization. Brief case reports in MPS type III and IV suggest that bone mineral density (BMD) is diminished, but did not account for patient size. In this report, BMD was evaluated by quantitative computed tomography and by dual-energy x-ray absorptiometry (DXA) in separate studies involving 10 patients with MPS type VI (7 Female; 7.0 to 21.0 y) and 4 male patients with MPS II (8.1 to 35.5 y). Vitamin D intake met the current RDA (200 IU) for most, though 25-OH vitamin D was insufficient (< 30 ng/mL) in 87.5% of patients tested. Ht Z-score was low -5.8 +/- 3.6, with height deficits greatest in MPS VI. Spine and whole body BMD Z-scores by DXA were considered normal for chronological age in all MPS II, and after correction for Ht Z-score, in all but one subject with MPS VI. These results suggest that vitamin D insufficiency is quite common in MPS. BMD by DXA is within normal range for most, particularly after correction for short stature. A review of bone health assessment is provided as well as a discussion of these results.
authors.affiliation: Department of Hematology, at the Children's Hospital & Research Center, Oakland, CA, USA.
authors.forename: Ellen B
authors.initials: EB
authors.lastname: Fung
authors.forename: Jo Ann
authors.initials: JA
authors.lastname: Johnson
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Madden
authors.forename: Tiffany
authors.initials: T
authors.lastname: Kim
authors.forename: Paul
authors.initials: P
authors.lastname: Harmatz