Journal of Inherited Metabolic Disease

, Volume 37, Issue 6, pp 889–898

Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases

  • Sowmiya Moorthie
  • Louise Cameron
  • Gurdeep S. Sagoo
  • Jim R. Bonham
  • Hilary Burton
Original Article

DOI: 10.1007/s10545-014-9729-0

Cite this article as:
Moorthie, S., Cameron, L., Sagoo, G.S. et al. J Inherit Metab Dis (2014) 37: 889. doi:10.1007/s10545-014-9729-0


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.



Glutaric aciduria type 1




Health technology assessment


Inherited metabolic disease


Isovaleric acidaemia


Long chain 3-hydroxy acyl-CoA dehydrogenase deficiency


Medium chain acyl-CoA dehydrogenase deficiency


Tandem mass spectrometry


Maple syrup urine disease

Supplementary material

10545_2014_9729_MOESM1_ESM.docx (62 kb)
ESM 1(DOCX 61.7 kb)

Copyright information

© SSIEM 2014

Authors and Affiliations

  • Sowmiya Moorthie
    • 1
  • Louise Cameron
    • 1
  • Gurdeep S. Sagoo
    • 1
  • Jim R. Bonham
    • 2
  • Hilary Burton
    • 1
  1. 1.PHG FoundationCambridgeUK
  2. 2.Clinical ChemistrySheffield Children’s NHS Foundation TrustSheffieldUK

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