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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.<\/jats:p>","DOI":"10.1007\/s10545-013-9587-1","type":"journal-article","created":{"date-parts":[[2013,1,31]],"date-time":"2013-01-31T06:09:08Z","timestamp":1359612548000},"page":"293-307","source":"Crossref","is-referenced-by-count":82,"title":["Diagnosing mucopolysaccharidosis IVA"],"prefix":"10.1002","volume":"36","author":[{"given":"Timothy C.","family":"Wood","sequence":"first","affiliation":[{"name":"Biochemical Genetics Laboratory Greenwood Genetic Center 106 Gregor Mendel Circle Greenwood SC 29646 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katie","family":"Harvey","sequence":"additional","affiliation":[{"name":"Chemical Pathology Great Ormond Street Hospital for Children London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Beck","sequence":"additional","affiliation":[{"name":"Children's Hospital University of Mainz Mainz Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maira Graeff","family":"Burin","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Clinicas de Porto Alegre Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yin\u2010Hsiu","family":"Chien","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Medical Genetics National Taiwan University Hospital Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heather J.","family":"Church","sequence":"additional","affiliation":[{"name":"Willink Biochemical Genetics Unit, Department of Genetic Medicine St Mary's Hospital Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00e2nia","family":"D'Almeida","sequence":"additional","affiliation":[{"name":"Department of Psychobiology Universidade Federal de S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Otto P.","family":"van Diggelen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University Medical Center Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Fietz","sequence":"additional","affiliation":[{"name":"SA Pathology, Women and Children's Hospital North Adelaide SA Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Clinicas de Porto Alegre Porto Alegre Brazil"},{"name":"Department of Genetics Federal University of Rio Grande do Sul (UFRGS) Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Harmatz","sequence":"additional","affiliation":[{"name":"Children's Hospital Oakland Oakland CA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara M.","family":"Hawley","sequence":"additional","affiliation":[{"name":"BioMarin Pharmaceutical Inc. 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