[Clinical effectiveness of newborn screening for inborn errors of metabolism using mass spectrometry. Part III: carnitine uptake deficiency (CUD); short-chain acyl-CoA dehydrogenase deficiency (SCADD); very long-chain acyl-CoA dehydrogenase deficiency (VLCADD)]

Cantero-Muñoz P, Atienza-Merino G.
Record ID 32014000949
Authors' objectives: To assess the clinical effectiveness of newborn screening of the following disorders: carnitine uptake deficiency (CUD), short-chain acyl-CoA dehydrogenase deficiency (SCADD) and very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).
Authors' recommendations: • The evidence of the effectiveness of screening programmes of inborn errors of metabolism assessed in this review was of low methodological quality, and was based on observational studies and, in some instances, on pilot programmes, furnishing direct evidence in some cases only. • Carnitine uptake deficiency (CUD) has a sufficiently long latency period to ensure that a screening programme could achieve the expected benefit. However, the absence of a clear genotypephenotype relationship means that the disease's natural history is not properly known, thus rendering it extremely difficult to predict precisely what percentage of patients will really develop the disease. Furthermore, despite having an effective treatment available, there is no clear consensus as to whether it would be more effective to introduce treatment in the latency or in the symptomatic stage. • Short-chain acyl-CoA dehydrogenase deficiency (SCADD) does not meet some of the main requirements for implementation of screening programme, namely, severe disease or important health problem, clear definition of diagnostic criteria or clear knowledge of the natural history of the disease. Moreover, there is insufficient evidence of the usefulness of newborn MS/MS screening for SCAD deficiency. • Although very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) has a sufficiently long latency period to ensure that the screening programme could yield the expected benefit, there are doubts about the screening test's reliability and whether or not the therapeutic intervention would be more effective if applied in the latency rather than in the symptomatic stage. • Prior to implementing a screening programme, however, an appropriate protocol would have to be drawn up which maximised the test' sensitivity and specificity and which defined, among others, the primary and secondary markers to be used and the specific cutpoints for each population and laboratory. • Lastly, information systems would have to be set up, which were based on pertinent, relevant and reliable results and made it possible to assess whether the activities or processes undertaken within the context of the screening programme were tailored to health needs, not only from a population standpoint, but also from that of the health system. Such information would serve as an aid when it came to measuring the attainment of goals, setting of priorities and taking of decisions.
Project Status: Completed
Year Published: 2015
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Spain
MeSH Terms
  • Humans
  • Infant, Newborn
  • Mass Spectrometry
  • Metabolism, Inborn Errors
  • Neonatal Screening
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.