{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T12:49:42Z","timestamp":1785329382554,"version":"3.55.0"},"reference-count":26,"publisher":"Walter de Gruyter GmbH","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,1,28]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background:<\/jats:title><jats:p>The objective of the study was to investigate clinical and gene mutation characteristics of primary carnitine deficiency (PCD) patients identified by newborn screening using tandem mass spectrometry (MS\/MS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>Tandem mass spectrometry (MS\/MS) was applied to screen inherited metabolic disease and seven patients with PCD were diagnosed among 62,568 samples. The<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>The initial free carnitine (C0) concentrations of the patients were 6.43\u00b11.36 \u03bcmol\/L, and the recall screening concentrations were 5.59\u00b10.89 \u03bcmol\/L. The patients were treated with oral carnitine, so the levels after treatment were 20.24\u00b13.88 \u03bcmol\/L. All patients had two pathogenic mutation alleles.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>The combined application of MS\/MS and a next generation sequencing panel could be used for the accurate diagnosis of PCD. The results of genetic diagnosis can guide the assisted reproductive treatment. The prognosis of PCD patients is good after early treatment.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2017-0002","type":"journal-article","created":{"date-parts":[[2017,7,28]],"date-time":"2017-07-28T10:07:53Z","timestamp":1501236473000},"source":"Crossref","is-referenced-by-count":15,"title":["Clinical features and genotyping of patients with primary carnitine deficiency identified by newborn screening"],"prefix":"10.1515","volume":"30","author":[{"given":"Yun","family":"Sun","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan-yun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tao","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref181","doi-asserted-by":"crossref","first-page":"2247","DOI":"10.1093\/hmg\/8.12.2247","article-title":"Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency","volume":"8","year":"1999","journal-title":"Hum Mol Genet"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"3571","DOI":"10.1021\/ac8022235","article-title":"Stability of acylcarnitines and free carnitine in dried blood samples: implications for retrospective diagnosis of inborn errors of metabolism and neonatal screening for carnitine transporter deficiency","volume":"81","year":"2009","journal-title":"Anal Chem"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1016\/j.ejmg.2014.08.001","article-title":"Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency","volume":"57","year":"2014","journal-title":"Eur J Med Genet"},{"key":"ref151","first-page":"103","article-title":"Carnitine levels in skeletal muscle, blood and urine in patients with primary carnitine deficiency during intermission with L-carnitine supplementation","volume":"20","year":"2015","journal-title":"JIMD Rep"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"2304","DOI":"10.1056\/NEJMoa025225","article-title":"Screening newborns for inborn errors of metabolism by tandem mass spectrometry","volume":"348","year":"2003","journal-title":"N Engl J Med"},{"key":"ref71","first-page":"405","article-title":"Primary carnitine deficiency in 17 patients: diagnosis, treatment and follow up","volume":"50","year":"2012","journal-title":"Chin J Pediatr"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1007\/s10545-013-9606-2","article-title":"Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands","volume":"37","year":"2014","journal-title":"J Inherit Metab Dis"},{"key":"ref281","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/s10545-012-9488-8","article-title":"Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events","volume":"36","year":"2013","journal-title":"J Inherit Metab Dis"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1212\/WNL.25.1.16","article-title":"The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features","volume":"25","year":"1975","journal-title":"Neurology"},{"key":"ref141","first-page":"83","article-title":"Primary carnitine deficiency \u2013 a rare treatable cause of cardiomyopathy and massive hepatomegaly","volume":"84","year":"2016","journal-title":"Indian J Pediatr"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1212\/WNL.25.1.16","article-title":"The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features","volume":"25","year":"1975","journal-title":"Neurology"},{"key":"ref161","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.ymgme.2008.02.002","article-title":"Cardiomyopathy and camitine deficiency","volume":"94","year":"2008","journal-title":"Mol Genet Metab"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1007\/s10545-013-9606-2","article-title":"Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands","volume":"37","year":"2014","journal-title":"J Inherit Metab Dis"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1186\/1750-1172-7-68","article-title":"Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management","volume":"7","year":"2012","journal-title":"Orphanet J Rare Dis"},{"key":"ref261","doi-asserted-by":"crossref","first-page":"3571","DOI":"10.1021\/ac8022235","article-title":"Stability of acylcarnitines and free carnitine in dried blood samples: implications for retrospective diagnosis of inborn errors of metabolism and neonatal screening for carnitine transporter deficiency","volume":"81","year":"2009","journal-title":"Anal Chem"},{"key":"ref221","first-page":"405","article-title":"Primary carnitine deficiency in 17 patients: diagnosis, treatment and follow up","volume":"50","year":"2012","journal-title":"Chin J Pediatr"},{"key":"ref01","first-page":"103","article-title":"Carnitine levels in skeletal muscle, blood and urine in patients with primary carnitine deficiency during intermission with L-carnitine supplementation","volume":"20","year":"2015","journal-title":"JIMD Rep"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"2247","DOI":"10.1093\/hmg\/8.12.2247","article-title":"Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency","volume":"8","year":"1999","journal-title":"Hum Mol Genet"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/s10545-012-9488-8","article-title":"Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events","volume":"36","year":"2013","journal-title":"J Inherit Metab Dis"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1186\/1750-1172-7-68","article-title":"Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management","volume":"7","year":"2012","journal-title":"Orphanet J Rare Dis"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.ymgme.2008.02.002","article-title":"Cardiomyopathy and camitine deficiency","volume":"94","year":"2008","journal-title":"Mol Genet Metab"},{"key":"ref291","first-page":"83","article-title":"Primary carnitine deficiency \u2013 a rare treatable cause of cardiomyopathy and massive hepatomegaly","volume":"84","year":"2016","journal-title":"Indian J Pediatr"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"2304","DOI":"10.1056\/NEJMoa025225","article-title":"Screening newborns for inborn errors of metabolism by tandem mass spectrometry","volume":"348","year":"2003","journal-title":"N Engl J Med"},{"key":"ref271","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1007\/s12041-015-0486-0","article-title":"Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency","volume":"94","year":"2015","journal-title":"J Genet"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1016\/j.ejmg.2014.08.001","article-title":"Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency","volume":"57","year":"2014","journal-title":"Eur J Med Genet"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1007\/s12041-015-0486-0","article-title":"Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency","volume":"94","year":"2015","journal-title":"J Genet"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"http:\/\/www.degruyter.com\/view\/j\/jpem.2017.30.issue-8\/jpem-2017-0002\/jpem-2017-0002.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2017-0002\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T01:42:11Z","timestamp":1619055731000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2017-0002\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,1]]},"references-count":26,"journal-issue":{"issue":"8"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2017-0002","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2017,1,1]]}}}