{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T23:51:32Z","timestamp":1790725892842,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2007,10,7]],"date-time":"2007-10-07T00:00:00Z","timestamp":1191715200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2007,12]]},"abstract":"<jats:p>Gaucher disease is generally caused by a deficiency of the lysosomal enzyme glucocerebrosidase. The degradation of glycosphingolipids requires also the participation of sphingolipid activator proteins. The prosaposin <jats:italic>PSAP<\/jats:italic> gene codes for a single protein which undergoes post\u2010translational cleavage to yield four proteins named saposins A, B, C and D. Saposin (SAP\u2010) C is required for glucosylceramide degradation, and its deficiency results in a variant form of Gaucher disease. In this report, we present clinical, biochemical, and molecular findings in a 36\u2010year\u2010old man and his 30\u2010year\u2010old sister with non\u2010neuronopathic Gaucher disease due to SAP\u2010C deficiency. Very high levels of chitotriosidase activity, chemokine CCL18, and increased concentration of glucosylceramide in plasma and normal \u03b2\u2010glucosidase activity in skin fibroblasts were observed in the patients. A molecular genetics study of the <jats:italic>PSAP<\/jats:italic> gene enabled the identification of one missense mutation, p.L349P, located in the SAP\u2010C domain and another mutation, p.M1L, located in the initiation codon of the prosaposin precursor protein. The presented findings describe the first cases where the non\u2010neuronopathic Gaucher disease has been definitely demonstrated to be a consequence of SAP\u2010C deficiency. Three previously described cases in the literature displayed a Gaucher type 3 phenotype.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2007.00899.x","type":"journal-article","created":{"date-parts":[[2010,7,19]],"date-time":"2010-07-19T12:00:48Z","timestamp":1279540848000},"page":"538-542","source":"Crossref","is-referenced-by-count":91,"title":["Non\u2010neuronopathic Gaucher disease due to saposin C deficiency"],"prefix":"10.1111","volume":"72","author":[{"given":"A","family":"Tylki\u2010Szyma\u0144ska","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Czartoryska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u2010T","family":"Vanier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"BJMH","family":"Poorthuis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JAE","family":"Groener","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"\u0141ugowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Millat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"AM","family":"Vaccaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Jurkiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,10,7]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0079-6603(00)66030-0"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1515\/bchm3.1986.367.2.879"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01716064"},{"issue":"1","key":"e_1_2_5_5_2","first-page":"152","article-title":"Third case of Gaucher disease with sap\u2010C deficiency and evaluation of twelve months\u2019 therapy by miglustat","volume":"28","author":"Amsallem D","year":"2005","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb04242.x"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(81)90251-5"},{"key":"e_1_2_5_8_2","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1172\/JCI117084","article-title":"Marked elevated plasma chitotriosidase activity. 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Six new cases affecting the PSAP gene identified in a 3\u2010year period","volume":"28","author":"Vanier MT","year":"2005","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_5_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)50733-5"},{"key":"e_1_2_5_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2004.12.045"},{"key":"e_1_2_5_23_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.12.6874"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2007.00899.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2007.00899.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T15:32:00Z","timestamp":1696865520000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2007.00899.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,10,7]]},"references-count":22,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2007,12]]}},"alternative-id":["10.1111\/j.1399-0004.2007.00899.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2007.00899.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,10,7]]}}}