{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T04:31:37Z","timestamp":1781152297286,"version":"3.54.1"},"reference-count":0,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2007,7,12]],"date-time":"2007-07-12T00:00:00Z","timestamp":1184198400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2007,8]]},"abstract":"Summary<\/jats:title>Canavan disease is an autosomal recessive leukodystrophy characterized by excessive excretion of N<\/jats:italic>\u2010acetylaspartic acid (NAA) in urine. The disease is caused by deficiency of aspartoacylase, the enzyme responsible for the hydrolysis of NAA into acetate and l\u2010aspartate. Patients, who are often asymptomatic in their early months, show a wide spectrum of clinical presentation thereafter that includes macrocephaly, poor head control, seizures, abnormal muscle tone, optic atrophy, significant developmental delay and death. In this work, we describe a simple liquid chromatography\u2013tandem mass spectrometry (LC\u2010MS\/MS) method for the determination of NAA in urine. The internal standard d<\/jats:italic>3<\/jats:sub>\u2010NAA was added to untreated urine and the mixture was injected into the LC\u2010MS\/MS system operated in the negative ion mode. Detection was achieved in multiple reaction monitoring (MRM) mode by monitoring m\/z<\/jats:italic> 174\u2009\u2192\u200988, 174\u2009\u2192\u2009130 and 174\u2009\u2192\u200958 for NAA and 177\u2009\u2192\u200989 for the internal standard. Separation was carried out on a C8<\/jats:sub> column (2.1\u2009\u00d7\u2009150 mm) using a mixture of acetonitrile and water (1:1 v\/v) containing 0.05% formic acid at a flow rate of 0.25 ml\/min. NAA was eluted at 1.6 min and the run time was approximately 2 min. Using spiked urine, the assay was linear up to 2 mmol\/L with limit of quantification at 1 \u03bcmol\/L (S\/N\u2009=\u200912). NAA in patients\u2019 urine (n<\/jats:italic>\u2009=\u200917) ranged between 366 and 21235 mmol\/mol creatinine compared to controls of <39 mmol\/mol creatinine (n<\/jats:italic>\u2009=\u2009159). This LC\u2010MS\/MS method for NAA as described involved no extraction and no derivatization, showed no interference, and gave excellent recovery with low variability and short analytical time.<\/jats:p>","DOI":"10.1007\/s10545-007-0635-6","type":"journal-article","created":{"date-parts":[[2007,7,16]],"date-time":"2007-07-16T16:43:40Z","timestamp":1184604220000},"page":"612-612","source":"Crossref","is-referenced-by-count":26,"title":["Quantification of N<\/i>\u2010acetylaspartic acid in urine by LC\u2010MS\/MS for the diagnosis of Canavan disease"],"prefix":"10.1002","volume":"30","author":[{"given":"O. Y.","family":"Al\u2010Dirbashi","sequence":"first","affiliation":[{"name":"National Laboratory for Newborn Screening King Faisal Specialist Hospital & Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. S.","family":"Rashed","sequence":"additional","affiliation":[{"name":"National Laboratory for Newborn Screening King Faisal Specialist Hospital & Research Centre Riyadh Saudi Arabia"},{"name":"Department of Genetics King Faisal Specialist Hospital & Research Centre Riyadh Saudi Arabia"},{"name":"Department of Medical Genetics King Faisal Specialist Hospital & Research Centre Riyadh Saudi Arabia"},{"name":"National Laboratory for Newborn Screening King Faisal Specialist Hospital & Research Centre P.O. Box 3354 Takussi Road Riyadh 11211 Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Al\u2010Qahtani","sequence":"additional","affiliation":[{"name":"National Laboratory for Newborn Screening King Faisal Specialist Hospital & Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. A.","family":"Al\u2010Mokhadab","sequence":"additional","affiliation":[{"name":"National Laboratory for Newborn Screening King Faisal Specialist Hospital & Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Kurdi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics\/Gynecology King Faisal Specialist Hospital & Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. A. A.","family":"Al\u2010Sayed","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics King Faisal Specialist Hospital & Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,7,12]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0635-6","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0635-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:34:34Z","timestamp":1694752474000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-007-0635-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,7,12]]},"references-count":0,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2007,8]]}},"alternative-id":["10.1007\/s10545-007-0635-6"],"URL":"https:\/\/doi.org\/10.1007\/s10545-007-0635-6","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,7,12]]}}}