Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme

Mol Genet Metab. 2011 Dec;104(4):470-5. doi: 10.1016/j.ymgme.2011.09.021. Epub 2011 Sep 22.


Newborn screening (NBS) by tandem mass spectrometry started in Galicia (Spain) in 2000. We analyse the results of screening and clinical follow-up of inborn errors of metabolism (IEM) detected during 10 years. Our programme basically includes the disorders recommended by the American College of Medical Genetics. Since 2002, blood and urine samples have been collected from every newborn on the 3rd day of life; before then, samples were collected between the 5th and 8th days. Newborns who show abnormal results are referred to the clinical unit for diagnosis and treatment. In these 10 years, NBS has led directly to the identification of 137 IEM cases (one per 2060 newborns, if 35 cases of benign hyperphenylalaninemia are excluded). In addition, 33 false positive results and 10 cases of transitory elevation of biomarkers were identified (making the positive predictive rate 76.11%), and 4 false negative results. The use of urine samples contributed significantly to IEM detection in 44% of cases. Clinical symptoms appeared before positive screening results in nine patients (6.6%), four of them screened between days 5 and 8. The death rate was 2.92%; of the survivors, 95.5% were asymptomatic after a mean observation period of 54 months, and only two had an intellectual/psychomotor development score less than 85. Compared to other studies, a high incidence of type I glutaric aciduria was detected, one in 35,027 newborns. This report highlights the benefits of urine sample collection during screening, and it is the first study on expanded newborn screening results in Spain.

MeSH terms

  • Biomarkers / urine
  • False Positive Reactions
  • Follow-Up Studies
  • Humans
  • Incidence
  • Infant, Newborn
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / mortality
  • Metabolism, Inborn Errors / urine
  • Neonatal Screening*
  • Spain / epidemiology


  • Biomarkers