title: Bone mineral density in MPS IV A (Morquio syndrome type A).
abstract: Mucopolysaccharidosis IV A (MPS IV A), Morquio A, is caused by deficiency in lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS), which is responsible for the catabolism of the glycosaminoglycans (GAGs) keratan sulfate (KS) and chondroitin 6-sulfate (C6S). Accumulation of GAGs results in disrupted cartilage formation and skeletal dysplasia. In this prospective cross-sectional study, bone mineral density (BMD) of the whole body (WB), lumbar spine (LS), and lateral distal femur (LDF) was acquired by dual-energy X-ray absorptiometry (DXA) on patients with MPS IV A. Functional abilities, medical history, Tanner score, and laboratory results were reviewed. Age and sex-matched norms were used to calculate Z-scores. Participants included 18 patients (13 females; 16 were unrelated) with a mean age of 21.4years (3.3 to 40.8years). While every patient was able to bear weight, 9 were full-time ambulators. Whole-body DXA could be obtained on only 6 patients (5 full-time ambulators) because of respiratory compromise caused by the position, presence of hardware, or positioning difficulties. Mean WB Z-score was -2.0 (range-0.3 to -4.1). Technical issues invalidating LS DXA in 8 patients included kyphosis at the thoracolumbar junction resulting in overlap of vertebrae in the posterior-anterior view. Mean LS BMD Z-score in full-time ambulators was -3.4 (range-1.6 to -5.0) and in the non-/partial ambulator was -4.0 (-3.7 to -4.2). Lateral distal femur BMD was acquired on every patient, and average Z-scores were -2 or less at all sites; full-time ambulators exhibited higher BMD. In conclusion, the LDF proved to be the most feasible site to measure in patients with MPS IV A. The higher LDF values in ambulators suggest this should be a consideration in promoting bone health for this group.
authors.affiliation: Department of Medical Imaging, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Department of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA. Electronic address: hkecskem@nemours.org.
authors.forename: Heidi H
authors.initials: HH
authors.lastname: Kecskemethy
authors.affiliation: Department of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Department of Biological Sciences, University of Delaware, Newark, DE, USA.
authors.forename: Francyne
authors.initials: F
authors.lastname: Kubaski
authors.affiliation: Department of Medical Imaging, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Thomas Jefferson University, Philadelphia, PA, USA.
authors.forename: H T
authors.initials: HT
authors.lastname: Harcke
authors.affiliation: Department of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Department of Biological Sciences, University of Delaware, Newark, DE, USA.
authors.forename: Shunji
authors.initials: S
authors.lastname: Tomatsu
mesh_terms: D015502:Absorptiometry, Photon; D000293:Adolescent; D000328:Adult; D015519:Bone Density; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging / Q000473:pathology; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000000981:diagnostic imaging* / Q000473:pathology; D011446:Prospective Studies; D051598:Whole Body Imaging; D055815:Young Adult
keywords: Bone mineral density; DXA; Dual-energy X-ray absorptiometry; Lateral distal femur; Lumbar spine; Morquio