{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T15:40:24Z","timestamp":1783698024622,"version":"3.55.0"},"reference-count":77,"publisher":"MDPI AG","issue":"16","license":[{"start":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T00:00:00Z","timestamp":1723161600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"University of Gdansk","award":["533-0C20-GS0D-24"],"award-info":[{"award-number":["533-0C20-GS0D-24"]}]},{"name":"University of Gdansk","award":["533-D000-GS0U-24"],"award-info":[{"award-number":["533-D000-GS0U-24"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Mucopolysaccharidoses (MPS) comprise a group of 12 metabolic disorders where defects in specific enzyme activities lead to the accumulation of glycosaminoglycans (GAGs) within lysosomes. This classification expands to 13 when considering MPS IIIE. This type of MPS, associated with pathogenic variants in the ARSG gene, has thus far been described only in the context of animal models. However, pathogenic variants in this gene also occur in humans, but are linked to a different disorder, Usher syndrome (USH) type IV, which is sparking increasing debate. This paper gathers, discusses, and summarizes arguments both for and against classifying dysfunctions of arylsulfatase G (due to pathogenic variants in the ARSG gene) in humans as another subtype of MPS, called MPS IIIE. Specific difficulties in diagnostics and the classification of some inherited metabolic diseases are also highlighted and discussed.<\/jats:p>","DOI":"10.3390\/diagnostics14161734","type":"journal-article","created":{"date-parts":[[2024,8,10]],"date-time":"2024-08-10T06:25:24Z","timestamp":1723271124000},"page":"1734","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Mucopolysaccharidosis Type IIIE: A Real Human Disease or a Diagnostic Pitfall?"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6010-8123","authenticated-orcid":false,"given":"Karolina","family":"Wi\u015bniewska","sequence":"first","affiliation":[{"name":"Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakub","family":"Wolski","sequence":"additional","affiliation":[{"name":"Psychiatry Ward, 7th Navy Hospital in Gdansk, Polanki 117, 80-305 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4758-1394","authenticated-orcid":false,"given":"Magdalena","family":"\u017babi\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0284-8932","authenticated-orcid":false,"given":"Aneta","family":"Szulc","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0820-7204","authenticated-orcid":false,"given":"Lidia","family":"Gaffke","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3634-6567","authenticated-orcid":false,"given":"Karolina","family":"Pierzynowska","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4042-7466","authenticated-orcid":false,"given":"Grzegorz","family":"W\u0119grzyn","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1002\/cbin.11275","article-title":"Changes in Cellular Processes Occurring in Mucopolysaccharidoses as Underestimated Pathomechanisms of These Diseases","volume":"45","author":"Gaffke","year":"2021","journal-title":"Cell Biol. 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