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This has been facilitated by the ability of this diagnostic method to limit analysis to specific metabolites of interest, enabling targeted screening for particular conditions. MS\/MS was introduced in 2009 in England to implement newborn bloodspot screening for medium chain acyl\u2010CoA dehydrogenase deficiency (MCADD) raising the possibility of screening for other inherited metabolic disorders. Recently, a pilot screening programme was conducted in order to evaluate the health and economic consequences of screening for five additional inherited metabolic disorders in England. As part of this study we conducted a systematic review and meta\u2010analysis to estimate the birth prevalence of these conditions: maple syrup urine disease, homocystinuria (pyridoxine unresponsive), glutaric aciduria type I, isovaleric acidaemia and long\u2010chain 3\u2010hydroxyacyl\u2010CoA dehydrogenase deficiency including trifunctional protein deficiency. We identified a total of 99 studies that were able to provide information on the prevalence of one or more of the disorders. The vast majority of studies were of screening programmes with some reporting on clinically detected cases.<\/jats:p>","DOI":"10.1007\/s10545-014-9729-0","type":"journal-article","created":{"date-parts":[[2014,7,14]],"date-time":"2014-07-14T14:35:02Z","timestamp":1405348502000},"page":"889-898","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":65,"title":["Systematic review and meta\u2010analysis to estimate the birth prevalence of five inherited metabolic diseases"],"prefix":"10.1002","volume":"37","author":[{"given":"Sowmiya","family":"Moorthie","sequence":"first","affiliation":[{"name":"PHG Foundation 2 Worts Causeway Cambridge CB1 8RN UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Cameron","sequence":"additional","affiliation":[{"name":"PHG Foundation 2 Worts Causeway Cambridge CB1 8RN UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gurdeep S.","family":"Sagoo","sequence":"additional","affiliation":[{"name":"PHG Foundation 2 Worts Causeway Cambridge CB1 8RN UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jim R.","family":"Bonham","sequence":"additional","affiliation":[{"name":"Clinical Chemistry Sheffield Children's NHS Foundation Trust Sheffield S10 2TH UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilary","family":"Burton","sequence":"additional","affiliation":[{"name":"PHG Foundation 2 Worts Causeway Cambridge CB1 8RN UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,7,15]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000100393"},{"issue":"1","key":"e_1_2_9_3_1","first-page":"13","article-title":"Supplemental newborn screening of amino acids (AA) and acylcarnitines (AC) by electrospray tandem mass spectrometry (ESI\u2010MS\/MS): experiences in Argentina","volume":"23","author":"Abdenur J","year":"2000","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_9_4_1","first-page":"4","article-title":"Pilot project on neonatal screening of inborn errors of metabolism (IEM) using tandem mass spectrometry in Malaysia","volume":"30","author":"Abdul\u2010Rahman S","year":"2007","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_9_5_1","unstructured":"AECNE(2012)Programas de cribado neonatal en Espa\u00f1a (2001\u20102011) Retrieved from: aecne.es\/datos2.htm. 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