With advances in the treatment of the mucopolysaccharidosis (MPS) disorders, musculoskeletal problems are increasingly becoming a focus of care for these patients. This review discusses the current understanding of the pathophysiology of musculoskeletal disease in MPS and its orthopedic management. Deformities of the spine, hips and extremities are common and often functionally limiting. Carpal...

There is a need to identify early disease markers to facilitate diagnosis of mucopolysaccharidosis type II (MPS II; Hunter syndrome). Mean birth weight and its association with disease severity was investigated in 609 patients enrolled in the Hunter Outcome Survey (HOS). This analysis indicated that birth weight is not an early marker of MPS II and is not associated with disease severity. It re...

1353 Ocular Changes in Patients With Mucopolysaccharidosis I Receiving Enzyme Replacement Therapy: A 4-Year Experience Susanne Pitz, MD, PhD; Olufunmilola Ogun, FWACS; Manal Bajbouj, MD; Laila Arash, MD; Gudrun Schulze-Frenking, MD; Michael Beck, MD, PhD 1357 Intravitreal Bevacizumab vs Verteporfin Photodynamic Therapy for Neovascular Age-Related Macular Degeneration Ziad F. Bashshur, MD; Alexa...

Deficient N-sulfoglucosamine sulfohydrolase (SGSH) enzyme activity causes mucopolysaccharidosis (MPS) type IIIA. A fluorimetric SGSH activity assay is commonly used to examine patient cells. Here, we modified this method for brain homogenates and define the parameters for assay linearity. SGSH activity was suppressed outside of these parameters. This method will enable the accurate measurement ...

Mucopolysaccharidosis type IVA or Morquio type-A disease is a hereditary lysosomal storage disorder caused by deficient activity of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The disease is caused by lysosomal accumulation of unprocessed glycosaminoglycans (GAGs) that manifests with severe to mild skeletal and cardiopulmonary abnormalities. We have developed a modif...

855 Indian Journal of Anaesthesia | Volume 61 | Issue 10 | October 2017 Liao JC, et al. Children with mucopolysaccharidosis: Perioperative care, morbidity, mortality, and new findings. J Pediatr Surg 1993;28:403-8. 3. Brosius FC 3rd, Roberts WC. Coronary artery disease in the hurler syndrome. Qualitative and quantitative analysis of the extent of coronary narrowing at necropsy in six children. ...

Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, McKusick #253200) is a lysosomal storage disorder that is caused by a deficiency in the lysosomal exohydrolase N-acetylgalactosamine-4-sulphatase (4-sulphatase, EC 3.1.6.1). We report a patient with no obvious clinical signs of MPS VI that has 5% of normal 4-sulphatase catalytic capacity. This patient represents an index case for t...