Early-Onset Inherited Metabolic Diseases: When Clinical Symptoms Precede Newborn Screening—Insights from Emilia-Romagna (Italy)
Our 11-year experience with ENS has shown that clinical onset can occur between the second and fourth day of life, though rare. Even if dried blood spot (DBS) collection was performed 24-48 h after birth, the time required for sample transportation and processing would still delay result availability, making early intervention unlikely. Therefore, our experience supports performing ENS at 48-72 h, as currently implemented in Italy, while also highlighting the advantages and limitations of earlier screening.
Authors
- Rita Ortolano (ORCID: https://orcid.org/0000-0001-8218-1463)
- Egidio Candela (ORCID: https://orcid.org/0000-0002-4573-9314)
- Giulia Montanari
- Federico Baronio (ORCID: https://orcid.org/0000-0003-3470-6880)
- Vittorio Domenico Ferrari (ORCID: https://orcid.org/0000-0002-6795-7347)
- Marcello Lanari (ORCID: https://orcid.org/0000-0002-2586-314X)
- Giacomo Biasucci (ORCID: https://orcid.org/0000-0002-7441-9248)
Institutions
- University of Parma (IT)
- Azienda USL di Bologna (IT)
- Guglielmo da Saliceto Hospital (IT)
- University of Bologna (IT)
Publication Details
- Journal
- Children
- Published
- 2025-04-04
- DOI
- https://doi.org/10.3390/children12040464
- Citations
- 5
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 6.59