[Clinical effectiveness of newborn screening for inborn errors of metabolism using mass spectrometry. Part IV: Beta-kethiolase deficiency (BKT); 3-Hydroxy-3-methyl glutaric aciduria (HMG)]

Cantero Muñoz P, Paz Valiñas L, Atienza Merino G.
Record ID 32015000396
Authors' objectives: To assess the clinical effectiveness of newborn screening of the following metabolic disorders, namely, 3-hydroxy-3-methylglutaric aciduria and beta-ketothiolase deficiency.
Authors' recommendations: Evidence of the effectiveness of HMG- and BKT-deficiency screening programmes was of low quality, and was based on observational-type studies without a control group, basically case series. • 3-hydroxy-3-methylglutaric aciduria has a long enough latency period to ensure that implementation of the complete screening process would be feasible. However, the disease's natural history is not properly known because there is no clear genotype-phenotype relationship, thus rendering it extremely difficult to predict precisely what percentage of patients will really develop the disease. Similarly, there is insufficient evidence to show the effectiveness of screening in terms of reducing mortality or morbidity, or that administration of the treatment in the latency or asymptomatic stage would be more beneficial. • While beta-ketothiolase deficiency also has an adequate latency period, inasmuch as onset in the neonatal stage is extremely infrequent, it does not fulfil some of the principal requirements for implementation, i.e., severe disease or important health problem (incidence/prevalence <1:1 000 000 RN) or clear knowledge of the natural history of the disease. Furthermore, evidence of the screening test's usefulness is not only insufficient, but also exhibits certain limitations. • Lastly, it is essential that all screening programmes, national and regional alike, comply with the goals, quality standards and information system established by the Public Health Committee Work Group for development of the Newborn Screening Information System: this would ensure proper follow-up and assessment of results.
Project Status: Completed
Year Published: 2015
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Spain
MeSH Terms
  • Biomarkers
  • Neonatal Screening
  • Metabolism, Inborn Errors
  • Amino Acid Metabolism, Inborn Errors
  • Glutaryl-CoA Dehydrogenase
  • Isoleucine
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)
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