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Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of clinical, radiographic, and laboratory findings. A group of biochemical genetics laboratory directors and clinicians involved in the diagnosis of MPS IVA, convened by BioMarin Pharmaceutical Inc., met to develop recommendations for diagnosis. The following conclusions were reached. Due to the wide variation and subtleties of radiographic findings, imaging of multiple body regions is recommended. Urinary glycosaminoglycan analysis is particularly problematic for MPS IVA and it is strongly recommended to proceed to enzyme activity testing even if urine appears normal when there is clinical suspicion of MPS IVA. Enzyme activity testing of GALNS is essential in diagnosing MPS IVA. Additional analyses to confirm sample integrity and rule out MPS IVB, multiple sulfatase deficiency, and mucolipidoses types II/III are critical as part of enzyme activity testing. Leukocytes or cultured dermal fibroblasts are strongly recommended for enzyme activity testing to confirm screening results. Molecular testing may also be used to confirm the diagnosis in many patients. However, two known or probable causative mutations may not be identified in all cases of MPS IVA. A diagnostic testing algorithm is presented which attempts to streamline this complex testing process.

Development of the infrastructure needed to integrate new efficient, cost-saving technologies and handle data has lagged behind the introduction of the technologies themselves. A lack of bandwidth on wireless communication networks limits the transmission of data from on-board monitoring and decision support systems. Industry-wide standards for communication between systems have yet to be established and there is a need for integration of business processes and information systems across each organisation so that data can be translated to prompt action. A prerequisite for the design of any system is a thorough understanding of the business and of where the value of information lies. Organisation change will be required to overcome the barriers to integrating technology., Development of the infrastructure needed to integrate new efficient, cost-saving technologies and handle data has lagged behind the introduction of the technologies themselves. A lack of bandwidth on wireless communication networks limits the transmission of data from on-board monitoring and decision support systems. Industry-wide standards for communication between systems have yet to be established and there is a need for integration of business processes and information systems across each organisation so that data can be translated to prompt action. A prerequisite for the design of any system is a thorough understanding of the business and of where the value of information lies. Organisation change will be required to overcome the barriers to integrating technology.