[Clinical effectiveness of newborn screening for inborn errors of metabolism using mass spectrometry: Maple Syrup Urine Disease, Homocystinuria, Glutaric Aciduria Type I, Isovaleric Acidaemia, Long-chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency]

Einöder-Moreno M, Atienza Merino G
Record ID 32013000500
Authors' objectives: To assess the clinical effectiveness of newborn screening of the following congenital errors of metabolism: maple syrup urine disease; homocystinuria; glutaric aciduria type I; isovaleric aciduria; and long-chain 3-hydroxyacyl CoA dehydrogenase deficiency.
Authors' recommendations: Evidence as to the effectiveness of the screening programmes of congenital errors of metabolism assessed in this review was of low quality and was based on observational studies, fundamentally longitudinal or compared case series and cross-sectional studies with no control group, which furnished direct evidence in some cases only. Two congenital errors of metabolism, GA-I and LCHADD, would fulfil all the requisites for implementation in screening programmes. In two cases, MSUD and IVA, the requirement of having a sufficiently long detectable latency period would not be met, unless the availability of the screening results before symptom onset could be ensured. In three diseases, no valid, reliable and efficient screening test can be claimed to exist, due to low sensitivity (using methionine levels in the case of homocystinuria) or irregular sensitivity (in the case of MSUD) or the diversity of screening protocols used (IVA). In all three cases, the PPV of the commonly used screening tests was very low. Before any screening programme can be implemented, an appropriate protocol that maximises the test's sensitivity and specificity must be drawn up, defining the analytes to be used, specific cut-off points for each population and laboratory, and, where applicable, second-tier tests. Lastly, information systems must be set up, based on pertinent, relevant and reliable results that make it possible to assess whether the activities or processes developed within a screening programme are tailored to health needs, both from the standpoint of the population and from that of the health-care system. Such information will be of aid when it comes to measuring attainment of goals, setting priorities and making decisions.
Project Status: Completed
Year Published: 2013
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Spain
MeSH Terms
  • Humans
  • Neonatal Screening
  • Metabolism, Inborn Errors
  • Mass Spectrometry
  • Maple Syrup Urine Disease
  • Homocystinuria
Organisation Name: Scientific Advice Unit, avalia-t; The Galician Health Knowledge Agency (ACIS)
Contact Address: Conselleria de Sanidade, Xunta de Galicia, San Lazaro s/n 15781 Santiago de Compostela, Spain. Tel: 34 981 541831; Fax: 34 981 542854;
Contact Name: avalia-t@sergas.es
Contact Email: avalia-t@sergas.es
Copyright: Galician Agency for Health Technology Assessment (AVALIA-T)
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.