title: Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
abstract: 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.
authors.affiliation: PHG Foundation, 2 Worts Causeway, Cambridge, CB1 8RN, UK, Sowmiya.moorthie@phgfoundation.org.
authors.forename: Sowmiya
authors.initials: S
authors.lastname: Moorthie
authors.forename: Louise
authors.initials: L
authors.lastname: Cameron
authors.forename: Gurdeep S
authors.initials: GS
authors.lastname: Sagoo
authors.forename: Jim R
authors.initials: JR
authors.lastname: Bonham
authors.forename: Hilary
authors.initials: H
authors.lastname: Burton
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency; D000592:Amino Acid Metabolism, Inborn Errors / Q000453:epidemiology*; D001928:Brain Diseases, Metabolic / Q000453:epidemiology*; D009202:Cardiomyopathies / Q000453:epidemiology; D004739:England / Q000453:epidemiology; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency*; D006712:Homocystinuria / Q000453:epidemiology*; D006801:Humans; D007231:Infant, Newborn; D050769:Isovaleryl-CoA Dehydrogenase / Q000172:deficiency*; D008052:Lipid Metabolism, Inborn Errors / Q000453:epidemiology; D008375:Maple Syrup Urine Disease / Q000453:epidemiology*; D017240:Mitochondrial Myopathies / Q000453:epidemiology; D063991:Mitochondrial Trifunctional Protein / Q000172:deficiency; D015997:Neonatal Screening; D009422:Nervous System Diseases / Q000453:epidemiology; D012206:Rhabdomyolysis / Q000453:epidemiology; D053719:Tandem Mass Spectrometry
chemical_list: D015094:3-Hydroxyacyl CoA Dehydrogenases; D050769:Isovaleryl-CoA Dehydrogenase; D050770:Glutaryl-CoA Dehydrogenase; D063991:Mitochondrial Trifunctional Protein