{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T07:38:25Z","timestamp":1780731505594,"version":"3.54.1"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2009,1,13]],"date-time":"2009-01-13T00:00:00Z","timestamp":1231804800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000724","name":"Health Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000724","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2009,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Background:<\/jats:title><jats:p>In order to test the feasibility of cord blood screening for inherited metabolic disease, a two\u2010year cohort study of births in six obstetric units from five towns in the north of England was undertaken. These towns have a high prevalence of consanguineous marriages, largely among the immigrant Asian community. The purpose of the study was to determine whether early detection of metabolic disease was possible and whether early intervention would improve prognosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>Following parental consent, cord blood samples were collected at birth and analysed for acylcarnitine and amino acid profiles by tandem mass spectrometry in one of two laboratories. One laboratory used butylated derivatives, the other used underivatized samples. The same laboratories performed routine blood spot neonatal screening at 5\u20137 days of age on these babies. Patients with positive results were investigated and treated by a metabolic paediatrician as soon as possible.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>24 983 births were examined. 12 952 samples were analysed as butyl derivatives, 12 031 samples were analysed underivatized. The following disorders were detected: medium\u2010chain acyl\u2010CoA dehydrogenase (MCAD) deficiency (1 case), 3\u2010methylcrotonyl\u2010CoA carboxylase (MCC) deficiency (2 cases), maternal carnitine transporter defect (2 cases), maternal MCC (1 case). The following disorders were diagnosed subsequently but were not detected by the cord blood screening: phenylketonuria (PKU) (1 case), maple syrup urine disease (MSUD) (2 cases), argininosuccinic aciduria (1 case), methylmalonic acidaemia (MMA) (1 case), glutaric aciduria type 2 (1 case), MCAD deficiency (2 cases), 3\u2010hydroxy\u20103\u2010methylglutaryl\u2010CoA lyase deficiency (1 case). Comprehensive reference data for all analytes by both methods were obtained.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>Cord blood testing is of limited value in detecting inherited metabolic disease. The metabolites associated with most disorders examined were not elevated in cord blood. Some maternal disorders, carnitine transporter defect and 3\u2010methlycrotonyl\u2010CoA carboxylase deficiency, are detected. These remain of uncertain clinical significance. Comprehensive reference data have been obtained that will facilitate future interpretation of studies in cord blood.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-008-1047-y","type":"journal-article","created":{"date-parts":[[2009,2,3]],"date-time":"2009-02-03T08:25:30Z","timestamp":1233649530000},"page":"95-101","source":"Crossref","is-referenced-by-count":32,"title":["Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study"],"prefix":"10.1002","volume":"32","author":[{"given":"J. H.","family":"Walter","sequence":"first","affiliation":[{"name":"Willink Biochemical Genetics Unit Royal Manchester Children's Hospital Manchester M27 4HA UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Patterson","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology St James\u2019 Hospital Leeds UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Till","sequence":"additional","affiliation":[{"name":"Willink Biochemical Genetics Unit Royal Manchester Children's Hospital Manchester M27 4HA UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. T. N.","family":"Besley","sequence":"additional","affiliation":[{"name":"Willink Biochemical Genetics Unit Royal Manchester Children's Hospital Manchester M27 4HA UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Fleming","sequence":"additional","affiliation":[{"name":"Willink Biochemical Genetics Unit Royal Manchester Children's Hospital Manchester M27 4HA UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. J.","family":"Henderson","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology St James\u2019 Hospital Leeds UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,1,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-7056-1"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0278-z"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.5.366"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00710054"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03047367"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0303-7"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.57.12.918"},{"issue":"1","key":"e_1_2_6_9_1","first-page":"84","article-title":"The utility of cord blood analysis in the diagnosis of organic acidaemias","volume":"23","author":"Patterson A","year":"2000","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"e_1_2_6_10_1","first-page":"9","article-title":"Newborn screening for MCAD deficiency at one week of age","volume":"28","author":"Phillips P","year":"2005","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.111.6.1399"},{"issue":"1","key":"e_1_2_6_12_1","first-page":"19","article-title":"Newborn screening for MCADD: findings from a multicentre UK prospective collaborative study","volume":"29","author":"Shortland GJ","year":"2006","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(92)90085-D"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01953939"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0376-y"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(07)60029-4"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1999.tb01157.x"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-1047-y","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-008-1047-y","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-1047-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T18:25:29Z","timestamp":1694802329000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-008-1047-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,1,13]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,2]]}},"alternative-id":["10.1007\/s10545-008-1047-y"],"URL":"https:\/\/doi.org\/10.1007\/s10545-008-1047-y","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,1,13]]}}}