{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T13:17:51Z","timestamp":1793971071414,"version":"4.8.0"},"reference-count":49,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2020,1,9]],"date-time":"2020-01-09T00:00:00Z","timestamp":1578528000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Previously, we reported a novel disease of impaired glycosaminoglycans (GAGs) metabolism without deficiency of known lysosomal enzymes\u2014mucopolysaccharidosis-plus syndrome (MPSPS). MPSPS, whose pathophysiology is not elucidated, is an autosomal recessive multisystem disorder caused by a specific mutation p.R498W in the VPS33A gene. VPS33A functions in endocytic and autophagic pathways, but p.R498W mutation did not affect both of these pathways in the patient\u2019s skin fibroblast. Nineteen patients with MPSPS have been identified: seventeen patients were found among the Yakut population (Russia) and two patients from Turkey. Clinical features of MPSPS patients are similar to conventional mucopolysaccharidoses (MPS). In addition to typical symptoms for conventional MPS, MPSPS patients developed other features such as congenital heart defects, renal and hematopoietic disorders. Diagnosis generally requires evidence of clinical picture similar to MPS and molecular genetic testing. Disease is very severe, prognosis is unfavorable and most of patients died at age of 10\u201320 months. Currently there is no specific therapy for this disease and clinical management is limited to supportive and symptomatic treatment.<\/jats:p>","DOI":"10.3390\/ijms21020421","type":"journal-article","created":{"date-parts":[[2020,1,10]],"date-time":"2020-01-10T04:06:51Z","timestamp":1578629211000},"page":"421","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["Mucopolysaccharidosis-Plus Syndrome"],"prefix":"10.3390","volume":"21","author":[{"given":"Filipp","family":"Vasilev","sequence":"first","affiliation":[{"name":"Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki, Okayama 701-0192, Japan"},{"name":"International Research Fellow of Japan Society for the Promotion of Science (Postdoctoral Fellowships for Research in Japan (Standard)), Tokyo 102-0083, Japan"},{"name":"Laboratory of Genome Medicine, North-Eastern Federal University, 677013 Yakutsk, Sakha Republic, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aitalina","family":"Sukhomyasova","sequence":"additional","affiliation":[{"name":"Laboratory of Genome Medicine, North-Eastern Federal University, 677013 Yakutsk, Sakha Republic, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takanobu","family":"Otomo","sequence":"additional","affiliation":[{"name":"Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki, Okayama 701-0192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,1,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"476","DOI":"10.21037\/atm.2018.11.39","article-title":"Lysosomal storage disease overview","volume":"6","author":"Sun","year":"2018","journal-title":"Ann. 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