{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T06:08:09Z","timestamp":1790662089474,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,3,12]],"date-time":"2015-03-12T00:00:00Z","timestamp":1426118400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Newborn screening (NBS) for Krabbe disease (KD) in New York and Missouri is conducted by measuring galactocerebrosidase (GALC) activity using tandem mass spectrometry (MS\/MS). These NBS efforts have shown that the incidence of KD is unexpectedly low (1:400,000) while many individuals (ca. 1:6000) with reduced GALC activity and genotypes of uncertain significance are detected and subjected to follow up testing. Psychosine (PSY) is a putative marker of KD progression and can be measured in dried blood spots (DBS). We sought to determine the role that PSY levels play in NBS for KD, follow up, and treatment monitoring.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>PSY was eluted from DBS with methanol containing N,N\u2010dimethyl\u2010D\u2010erythro\u2010sphingosine as internal standard (IS). Liquid chromatography\u2010MS\/MS was conducted over 17 minutes in the multiple reaction monitoring positive mode to follow the precursor to product species transitions for PSY and IS. Separation of the structural isomers PSY and glucosylsphingosine was accomplished by hydrophilic interaction liquid chromatography.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Pre\u2010analytical and analytical factors were studied and revealed satisfactory results. PSY was also measured in DBS collected from controls (range: &lt;8 nmol\/L, <jats:italic>N<\/jats:italic>\u2009=\u2009220), KD patients at various disease stages (range: 8\u2013112, <jats:italic>N<\/jats:italic>\u2009=\u200926), and GALC mutation carriers (range: &lt;15 nmol\/L, <jats:italic>N<\/jats:italic>\u2009=\u200918).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>PSY measurement in DBS could serve as a 2nd tier assay in NBS for KD, simplify and reduce the cost of follow up protocols, help determine disease progression, and be used to monitor KD patients following hematopoietic stem cell transplantation. However, additional chronological measurements of PSY in KD patients are required to confirm these possibilities.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-015-9822-z","type":"journal-article","created":{"date-parts":[[2015,3,11]],"date-time":"2015-03-11T10:25:23Z","timestamp":1426069523000},"page":"923-929","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":59,"title":["Measurement of psychosine in dried blood spots \u2014 a possible improvement to newborn screening programs for Krabbe disease"],"prefix":"10.1002","volume":"38","author":[{"given":"Coleman T.","family":"Turgeon","sequence":"first","affiliation":[{"name":"Biochemical Genetics Laboratory Mayo Clinic College of Medicine 200 First Street SW Rochester MN 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph J.","family":"Orsini","sequence":"additional","affiliation":[{"name":"New York State Department of Health Wadsworth Center Albany NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen A.","family":"Sanders","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Laboratory Mayo Clinic College of Medicine 200 First Street SW Rochester MN 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark J.","family":"Magera","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Laboratory Mayo Clinic College of Medicine 200 First Street SW Rochester MN 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas J.","family":"Langan","sequence":"additional","affiliation":[{"name":"Hunter James Kelly Research Institute Buffalo NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria L.","family":"Escolar","sequence":"additional","affiliation":[{"name":"Children's Hospital of Pittsburgh University of Pittsburgh Medical Center Pittsburgh PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Duffner","sequence":"additional","affiliation":[{"name":"Hunter James Kelly Research Institute Buffalo NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Devin","family":"Oglesbee","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Laboratory Mayo Clinic College of Medicine 200 First Street SW Rochester MN 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitar","family":"Gavrilov","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Laboratory Mayo Clinic College of Medicine 200 First Street SW Rochester MN 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Tortorelli","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Laboratory Mayo Clinic College of Medicine 200 First Street SW Rochester MN 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piero","family":"Rinaldo","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Laboratory Mayo Clinic College of Medicine 200 First Street SW Rochester MN 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimiyo","family":"Raymond","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Laboratory Mayo Clinic College of Medicine 200 First Street SW Rochester MN 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dietrich","family":"Matern","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Laboratory Mayo Clinic College of Medicine 200 First Street SW Rochester MN 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,3,12]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1373\/49.7.1041"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0217-13.2013"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2013.01.017"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2008.11.010"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa042604"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.M039610"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6719111"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-4347(98)00449-6"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0691-y"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(72)90381-6"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2009.01.022"},{"key":"e_1_2_10_13_1","volume-title":"Dissertation","author":"Salveson R","year":"2011"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0076-6879(00)12900-3"},{"key":"e_1_2_10_15_1","unstructured":"WengerDA EscolarML LuziP RafiMA(2014)Krabbe disease (Globoid Cell Leukodystrophy). InValleD BeaudetAL VogelsteinB KinzlerKW AntonarakisSE BallabioA GibsonK MitchellG(Eds).http:\/\/ommbid.mhmedical.com\/content.aspx?bookid=971&Sectionid=62644214. Accessed 17 Feb 2015"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.71.3.854"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpba.2013.02.039"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.5858\/arpa.2011-0667-LE"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-015-9822-z","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:49:50Z","timestamp":1694753390000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-015-9822-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3,12]]},"references-count":17,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,9]]}},"alternative-id":["10.1007\/s10545-015-9822-z"],"URL":"https:\/\/doi.org\/10.1007\/s10545-015-9822-z","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,3,12]]}}}