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

Cantero Muñoz P, Paz Valiñas L, Atienza Merino G
Record ID 32015000959
Original Title: Efectividad clínica del cribado neonatal de errores congénitos del metabolismo mediante espectrometría de masas en tándem. Parte IV: • Aciduria 3-hidroxi-3-metilglutárica (HMG) • Deficiencia de beta-cetotiolasa (BKT)
Authors' objectives: To assess the clinical effectiveness of newborn screening of the following metabolic disorders, namely, 3-hydroxy-3-methylglutaric aciduria and beta-ketothiolase de ciency.
Authors' recommendations: • Evidence of the effectiveness of HMG- and BKT-de ciency 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 dif cult to predict precisely what percentage of patients will really develop the disease. Similarly, there is insuf cient 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 bene cial. • While beta-ketothiolase de ciency also has an adequate latency period, inasmuch as onset in the neonatal stage is extremely infrequent, it does not ful l 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 insuf cient, 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
  • Infant, Newborn
  • Tandem Mass Spectrometry
  • Metabolic Diseases
  • Dried Blood Spot Testing
  • Metabolism, Inborn Errors
  • Amino Acid Metabolism, Inborn Errors
  • Glutaryl-CoA Dehydrogenase
  • Brain Diseases, Metabolic
  • Acetyl-CoA C-Acyltransferase
  • Gas Chromatography-Mass Spectrometry
  • Ketones
  • Acetyl-CoA C-Acetyltransferase
  • DNA Mutational Analysis
  • Ketosis
  • Ketone Bodies
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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