Affiliations: Department of Hematology, at the Children's Hospital
& Research Center, Oakland, CA, USA | Department of Gastroenterology and Nutrition, at the
Children's Hospital & Research Center, Oakland, CA, USA | Children's Hospital Oakland Research Institute,
Oakland, CA, USA
Note: [] Address for correspondence: Ellen B. Fung, PhD RD, Assistant
Clinical Research Scientist, Department of Hematology, Children's Hospital
& Research Center, Oakland, 5700 Martin Luther King Jr Way, Oakland, CA
94609, USA. Tel.: +1 510 428 3885 x 4939; Fax: +1 510 450 5877; E-mail:
[email protected]
Abstract: An Erratum for this article can be found here:
http://iospress.metapress.com/content/e40m3u78gh17q441/?p=8c94370d4f2a48aa92df3da4183b6906&pi=12 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.
Keywords: DXA, Bone mineral density, low bone mass, vitamin D, MPS II, MPS VI
