{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T03:09:31Z","timestamp":1792292971362,"version":"4.4.0"},"reference-count":39,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,5,24]],"date-time":"2021-05-24T00:00:00Z","timestamp":1621814400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002714","name":"Albert-Ludwigs-Universit\u00e4t Freiburg","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002714","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gaucher disease (GD), one of the most common lysosomal disorders, is caused by deficiency of \u03b2\u2010glucocerebrosidase. Based on the presence and severity of neurological complications, GD is classified into types I, II (the most severe form), and III. Abnormalities in systemic markers of vitamin B<jats:sub>12<\/jats:sub> (B<jats:sub>12<\/jats:sub>) metabolism have been reported in GD type I patients, suggesting a higher prevalence of B<jats:sub>12<\/jats:sub> deficiency in these patients. A 2\u2010month\u2010old male with GD type II was admitted to the hospital presenting jaundice, hepatosplenomegaly, and ichthyosis. At admission, cholestasis and ascites, abnormal liver function enzymes, prolonged prothrombin time, and high levels of B<jats:sub>12<\/jats:sub> were confirmed. Analysis of biomarkers of B<jats:sub>12<\/jats:sub> status revealed elevated B<jats:sub>12<\/jats:sub> and holo\u2010transcobalamin (holo\u2010TC) levels. The B<jats:sub>12<\/jats:sub> profile found in our patient is the opposite to what is described for GD type I patients. Holo\u2010TC may increase in inflammatory states or due to liver diseases. In GD, the accumulation of glucocerebroside may be a trigger that initiates a systemic inflammatory reaction, characterized by macrophage activation. We suggest higher levels of holo\u2010TC could be associated with a more severe (neuronopathic) GD, and be a biomarker of GD type II.<\/jats:p>","DOI":"10.1002\/ajmg.a.62252","type":"journal-article","created":{"date-parts":[[2021,5,25]],"date-time":"2021-05-25T05:59:41Z","timestamp":1621922381000},"page":"2471-2476","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Elevated <scp>holo\u2010<\/scp>transcobalamin in Gaucher disease type <scp>II<\/scp>: A\u00a0case report"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3274-8801","authenticated-orcid":false,"given":"Suelen Porto","family":"Basgalupp","sequence":"first","affiliation":[{"name":"Postgraduate Program in Medical Sciences School of Medicine, Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"},{"name":"Basic Research and Advanced Investigations in Neurosciences (BRAIN) Laboratory Experimental Research Center, Hospital de Cl\u00ednicas de Porto Alegre (HCPA)  Porto Alegre Brazil"},{"name":"Hospital Moinhos de Vento  Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karina Carvalho","family":"Donis","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre (HCPA)  Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Siebert","sequence":"additional","affiliation":[{"name":"Basic Research and Advanced Investigations in Neurosciences (BRAIN) Laboratory Experimental Research Center, Hospital de Cl\u00ednicas de Porto Alegre (HCPA)  Porto Alegre Brazil"},{"name":"Unit of Laboratorial Research, Experimental Research Center Hospital de Cl\u00ednicas de Porto Alegre (HCPA)  Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo Pinto","family":"e Vairo","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osvaldo","family":"Artigalas","sequence":"additional","affiliation":[{"name":"Hospital da Crian\u00e7a Concei\u00e7\u00e3o, Grupo Hospitalar Concei\u00e7\u00e3o (GHC)  Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise L.","family":"de Camargo Pinto","sequence":"additional","affiliation":[{"name":"Hospital Infantil Joana de Gusm\u00e3o  Florian\u00f3polis Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sidney","family":"Behringer","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine Medical Center, University of Freiburg  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ute","family":"Spiekerkoetter","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine Medical Center, University of Freiburg  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0911-5758","authenticated-orcid":false,"given":"Luciana","family":"Hannibal","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine Medical Center, University of Freiburg  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ida Vanessa D.","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Medical Sciences School of Medicine, Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"},{"name":"Basic Research and Advanced Investigations in Neurosciences (BRAIN) Laboratory Experimental Research Center, Hospital de Cl\u00ednicas de Porto Alegre (HCPA)  Porto Alegre Brazil"},{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre (HCPA)  Porto Alegre Brazil"},{"name":"Department of Genetics Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,5,24]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/hct051"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1515\/cclm-2012-0545"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.canep.2015.12.007"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.thromres.2017.06.022"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-020-0947-z"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2006.tb02398.x"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1155\/2018\/2549451"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197502062920603"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.revmed.2007.07.007"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2386"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.revmed.2009.03.125"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1080\/15227950500405296"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcp\/84.3.291"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M117.784819"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-010-0601-x"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2001.03156.x"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197611112952002"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1067\/S0022-3476(03)00302-0"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.3389\/fmolb.2016.00027"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1177\/2326409817692359"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20676"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2006.08.041"},{"issue":"15","key":"e_1_2_9_24_1","first-page":"119","article-title":"The natural history of type 2 Gaucher disease in the 21st century: A retrospective study","volume":"95","author":"Lal T. R.","year":"2020","journal-title":"Neurology"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1080\/01635581.2018.1397711"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1080\/00365513.2018.1447143"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.4001945"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.294"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.08.015"},{"issue":"77","key":"e_1_2_9_30_1","first-page":"273","article-title":"Gaucher disease: Insights from a rare Mendelian disorder","volume":"14","author":"Sidransky E.","year":"2012","journal-title":"Discovery Medicine"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2006.05.001"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00520-016-3175-5"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms18020441"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0141-5"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200002)15:2<181::AID-HUMU7>3.0.CO;2-S"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1086\/367850"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-140681"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24957"},{"issue":"4","key":"e_1_2_9_39_1","first-page":"855","article-title":"High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews","volume":"49","author":"Zimran A.","year":"1991","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1684\/abc.2017.1227"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62252","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62252","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62252","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T08:39:48Z","timestamp":1693211988000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62252"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,24]]},"references-count":39,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1002\/ajmg.a.62252"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62252","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5,24]]},"assertion":[{"value":"2021-01-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-04-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}