Newborn Screening for Fabry Disease: Current Status of Knowledge
Fabry disease is an X-linked progressive lysosomal disorder, due to α-galactosidase A deficiency. Patients with a classic phenotype usually present in childhood as a multisystemic disease. Patients presenting with the later onset subtypes have cardiac, renal and neurological involvements in adulthoo...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-06-01
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| Series: | International Journal of Neonatal Screening |
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| Online Access: | https://www.mdpi.com/2409-515X/9/2/31 |
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| author | Vincenza Gragnaniello Alessandro P. Burlina Anna Commone Daniela Gueraldi Andrea Puma Elena Porcù Maria Stornaiuolo Chiara Cazzorla Alberto B. Burlina |
| author_facet | Vincenza Gragnaniello Alessandro P. Burlina Anna Commone Daniela Gueraldi Andrea Puma Elena Porcù Maria Stornaiuolo Chiara Cazzorla Alberto B. Burlina |
| author_sort | Vincenza Gragnaniello |
| collection | DOAJ |
| description | Fabry disease is an X-linked progressive lysosomal disorder, due to α-galactosidase A deficiency. Patients with a classic phenotype usually present in childhood as a multisystemic disease. Patients presenting with the later onset subtypes have cardiac, renal and neurological involvements in adulthood. Unfortunately, the diagnosis is often delayed until the organ damage is already irreversibly severe, making specific treatments less efficacious. For this reason, in the last two decades, newborn screening has been implemented to allow early diagnosis and treatment. This became possible with the application of the standard enzymology fluorometric method to dried blood spots. Then, high-throughput multiplexable assays, such as digital microfluidics and tandem mass spectrometry, were developed. Recently DNA-based methods have been applied to newborn screening in some countries. Using these methods, several newborn screening pilot studies and programs have been implemented worldwide. However, several concerns persist, and newborn screening for Fabry disease is still not universally accepted. In particular, enzyme-based methods miss a relevant number of affected females. Moreover, ethical issues are due to the large number of infants with later onset forms or variants of uncertain significance. Long term follow-up of individuals detected by newborn screening will improve our knowledge about the natural history of the disease, the phenotype prediction and the patients’ management, allowing a better evaluation of risks and benefits of the newborn screening for Fabry disease. |
| first_indexed | 2024-03-11T02:20:22Z |
| format | Article |
| id | doaj.art-64a6030d9bf449ae867c5dd619c83f0f |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-11T02:20:22Z |
| publishDate | 2023-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-64a6030d9bf449ae867c5dd619c83f0f2023-11-18T10:53:22ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2023-06-01923110.3390/ijns9020031Newborn Screening for Fabry Disease: Current Status of KnowledgeVincenza Gragnaniello0Alessandro P. Burlina1Anna Commone2Daniela Gueraldi3Andrea Puma4Elena Porcù5Maria Stornaiuolo6Chiara Cazzorla7Alberto B. Burlina8Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35128 Padua, ItalyNeurology Unit, St Bassiano Hospital, 36061 Bassano del Grappa, ItalyDivision of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35128 Padua, ItalyDivision of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35128 Padua, ItalyDivision of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35128 Padua, ItalyDivision of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35128 Padua, ItalyDivision of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35128 Padua, ItalyDivision of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35128 Padua, ItalyDivision of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35128 Padua, ItalyFabry disease is an X-linked progressive lysosomal disorder, due to α-galactosidase A deficiency. Patients with a classic phenotype usually present in childhood as a multisystemic disease. Patients presenting with the later onset subtypes have cardiac, renal and neurological involvements in adulthood. Unfortunately, the diagnosis is often delayed until the organ damage is already irreversibly severe, making specific treatments less efficacious. For this reason, in the last two decades, newborn screening has been implemented to allow early diagnosis and treatment. This became possible with the application of the standard enzymology fluorometric method to dried blood spots. Then, high-throughput multiplexable assays, such as digital microfluidics and tandem mass spectrometry, were developed. Recently DNA-based methods have been applied to newborn screening in some countries. Using these methods, several newborn screening pilot studies and programs have been implemented worldwide. However, several concerns persist, and newborn screening for Fabry disease is still not universally accepted. In particular, enzyme-based methods miss a relevant number of affected females. Moreover, ethical issues are due to the large number of infants with later onset forms or variants of uncertain significance. Long term follow-up of individuals detected by newborn screening will improve our knowledge about the natural history of the disease, the phenotype prediction and the patients’ management, allowing a better evaluation of risks and benefits of the newborn screening for Fabry disease.https://www.mdpi.com/2409-515X/9/2/31Fabry diseasenewborn screeninglysosomal storage diseasedigital microfluidicstandem mass spectrometrysecond tier test |
| spellingShingle | Vincenza Gragnaniello Alessandro P. Burlina Anna Commone Daniela Gueraldi Andrea Puma Elena Porcù Maria Stornaiuolo Chiara Cazzorla Alberto B. Burlina Newborn Screening for Fabry Disease: Current Status of Knowledge International Journal of Neonatal Screening Fabry disease newborn screening lysosomal storage disease digital microfluidics tandem mass spectrometry second tier test |
| title | Newborn Screening for Fabry Disease: Current Status of Knowledge |
| title_full | Newborn Screening for Fabry Disease: Current Status of Knowledge |
| title_fullStr | Newborn Screening for Fabry Disease: Current Status of Knowledge |
| title_full_unstemmed | Newborn Screening for Fabry Disease: Current Status of Knowledge |
| title_short | Newborn Screening for Fabry Disease: Current Status of Knowledge |
| title_sort | newborn screening for fabry disease current status of knowledge |
| topic | Fabry disease newborn screening lysosomal storage disease digital microfluidics tandem mass spectrometry second tier test |
| url | https://www.mdpi.com/2409-515X/9/2/31 |
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