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It is characterized by progressive cognitive decline and severe hyperactivity, with relatively mild somatic features. This review focuses on clinical features, diagnosis, treatment, and follow\u2010up of MPS III, and provides information about supplementary tests and differential diagnosis. Given that few reviews of MPS III have been published, several studies were compiled to establish diagnostic recommendations. Quantitative urinary glycosaminoglycan analysis is strongly recommended, and measurement of disaccharides, heparin cofactor II\u2013thrombin complex and gangliosides is also used. Enzyme activity of the different enzymes in blood serum, leukocytes or fibroblasts, and mutational analysis for <jats:italic>SGSH, NAGLU, HGSNAT<\/jats:italic> or <jats:italic>GNS<\/jats:italic> genes are required to confirm diagnosis and differentiate four subtypes of MPS III. Although there is no global consensus for treatment, enzyme replacement therapy and gene therapy can provide appropriate results. In this regard, recent publications on treatment and follow\u2010up are discussed.<\/jats:p>","DOI":"10.1111\/ped.12636","type":"journal-article","created":{"date-parts":[[2015,4,7]],"date-time":"2015-04-07T14:59:57Z","timestamp":1428418797000},"page":"331-338","source":"Crossref","is-referenced-by-count":117,"title":["Sanfilippo syndrome: Overall review"],"prefix":"10.1111","volume":"57","author":[{"given":"Fernando","family":"Andrade","sequence":"first","affiliation":[{"name":"Division of Metabolism BioCruces Health Research Institute, CIBER de Enfermedades Raras (CIBERER)  Barakaldo Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Ald\u00e1miz\u2010Echevarr\u00eda","sequence":"additional","affiliation":[{"name":"Division of Metabolism BioCruces Health Research Institute, CIBER de Enfermedades Raras (CIBERER)  Barakaldo Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Llarena","sequence":"additional","affiliation":[{"name":"Division of Metabolism BioCruces Health Research Institute, CIBER de Enfermedades Raras (CIBERER)  Barakaldo Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Luz","family":"Couce","sequence":"additional","affiliation":[{"name":"Unit of Diagnosis and Treatment of Congenital Metabolic Diseases Neonatology Service, Department of Pediatrics, CIBER de Enfermedades Raras (CIBERER), IDIS Clinic University Hospital of Santiago de Compostela  Coru\u00f1a Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,6,26]]},"reference":[{"key":"e_1_2_9_2_1","first-page":"741","article-title":"Mucopolysaccharides disorder: A possible new genotype of Hurler's syndrome","volume":"102","author":"Harris RC","year":"1961","journal-title":"Am. 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