Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases
- 1.6k Downloads
Many newborn screening programmes now use tandem mass spectrometry in order to screen for a variety of diseases. However, countries have embraced this technology with a differing pace of change and for different conditions. 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-CoA 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-analysis to estimate the birth prevalence of these conditions: maple syrup urine disease, homocystinuria (pyridoxine unresponsive), glutaric aciduria type I, isovaleric acidaemia and long-chain 3-hydroxyacyl-CoA 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.
KeywordsNewborn Screening Western Population Congenital Hypothyroidism Homocystinuria Maple Syrup Urine Disease
Glutaric aciduria type 1
Health technology assessment
Inherited metabolic disease
Long chain 3-hydroxy acyl-CoA dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency
Tandem mass spectrometry
Maple syrup urine disease
The authors would like to acknowledge with thanks the laboratories who contributed data for this report.
Conflict of interest
Sowmiya Moorthie Louise Cameron, Gurdeep S Sagoo, Jim Bonham and Hilary Burton declare they have no conflict of interest.
This article does not contain any studies with human or animal subjects performed by any of the authors.
This review was funded by the National Institute for Health Research Collaboration for Leadership in Applied Health Research and Care for South Yorkshire (NIHR CLAHRC SY).
- Abdenur J, Chamoles N, Schenone A, Guinle A, Fusta M, Gagglioli D (2000) Supplemental newborn screening of amino acids (AA) and acylcarnitines (AC) by electrospray tandem mass spectrometry (ESI-MS/MS): experiences in Argentina. J Inherit Metab Dis 23(1):13Google Scholar
- Abdul-Rahman S, Mohd YZ, Yew SC, Omar A, Othman NA, Shaharudin AS (2007) Pilot project on neonatal screening of inborn errors of metabolism (IEM) using tandem mass spectrometry in Malaysia. J Inherit Metab Dis 30:4–4Google Scholar
- AECNE (2012) Programas de cribado neonatal en España (2001-2011) Retrieved from: aecne.es/datos2.htm. (May 2013). Programas de cribado neonatal en España (2001–2011) Google Scholar
- a Marca G, Malvagia S, Casetta B, Pasquini E, Donati MA, Zammarchi E (2008) Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: update on methods to reduce false tests. J Inherit Metab Dis 31:S395–S404Google Scholar
- Lindner M, Abdoh G, Fang-Hoffmann J et al (2007) Implementation of extended neonatal screening and a metabolic unit in the state of Qatar: developing and optimizing strategies in cooperation with the neonatal screening center in Heidelberg. J Inherit Metab Dis 30(4):522–529PubMedCrossRefGoogle Scholar
- Nennstiel-Ratzel U, Luders A, Blankenstein O, et al (2010) Deutsche Gesellschaft fur neugeborenenscreening E.V. National Screening Report Germany: years 2004–2007; 2008; 2009; 2010. Retrieved from http://www.screening-dgns.de/ Date accessed 10.07.13.
- NNSGRC (2013) National newborn screening and global resource center: US newborn screening programme (1991–2000 cumulative; and 2001, 2002, 2003, 2004, 2005, 2006) Retrieved from: genes-r-us.uthscda.edu/newborn-reports (May 2013Google Scholar
- Pandor A, Eastham J, Beverley C, Chilcott J, Paisley S (2004) Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review. Health Technology Assessment 8(12): iii-NaNGoogle Scholar
- Wilson C, Kerruish NJ, Wilcken B, Wiltshire E, Webster D (2007) The failure to diagnose inborn errors of metabolism in New Zealand: the case for expanded newborn screening. N ZMed J 120(1262):1–11Google Scholar