title: Bone mineral density in patients with mucopolysaccharidosis type III.
abstract: Mucopolysaccharidosis type III (MPS III) is a neurodegenerative disorder. In MPS III patients, heparan sulfate accumulates in many tissues especially the central nervous system. There are limited data regarding bone involvement in MPS III compared to other MPS types. The aim of this study was to evaluate bone mineral density (BMD) and the prevalence of low bone mass, and to explore the association between BMD, vitamin D levels, bone fracture, and patient characteristics in MPS III. A clinical assessment and interview was held to obtain data about family history, height, weight, body mass index (BMI), nutrition, walking capacity, bone fracture, epilepsy, and medical therapy of 15 patients with MPS III. Height, weight, and BMI z scores were calculated. Laboratory tests including 25-hydroxyvitamin D (25-OH-D) were measured. BMD measurements for the lumbar spine were obtained using dual-energy X-ray absorptiometry (DXA). BMD z scores were adjusted for height-for-age z score (HAZ) to provide correction for height deficits. Lumbar spine BMD z score was low (<-1) in five patients for chronological age and normalized in two of five patients after adjustment for HAZ. Three patients continued to have low BMD; these were older than the other patients and one had a history of long bone fracture. Two of these patients were observed to have lost walking capacity at 10 and 14 years, and the other was walking with support. Six patients had deficient, and three patients had insufficient levels of 25-OH-D. Two osteoporotic patients had significantly lower levels of 25-OH-D. We found that older patients with immobility are at high risk of osteoporosis and bone fracture, and vitamin D deficiencies/insufficiencies are widely seen. We recommend monitoring BMD by DXA and checking vitamin D metabolism to assess low bone mass and fracture risk in older MPS III patients with immobility.
authors.affiliation: Department of Pediatric Genetics, Akdeniz University School of Medicine, Antalya, Turkey. banuguzel@hotmail.com.
authors.forename: Banu Guzel
authors.initials: BG
authors.lastname: Nur
authors.affiliation: Department of Physical Medicine and Rehabilitation, Akdeniz University School of Medicine, Antalya, Turkey.
authors.forename: Hakan
authors.initials: H
authors.lastname: Nur
authors.affiliation: Department of Pediatric Genetics, Akdeniz University School of Medicine, Antalya, Turkey.
authors.forename: Ercan
authors.initials: E
authors.lastname: Mihci
mesh_terms: D015502:Absorptiometry, Photon; D000293:Adolescent; D015519:Bone Density; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D009084:Mucopolysaccharidosis III / Q000503:physiopathology*; D055815:Young Adult
keywords: Bone mineral density; Dual-energy X-ray absorptiometry; Mucopolysaccharidosis type III; Osteoporosis; Vitamin D