Newborn screening in mucopolysaccharidoses
Abstract Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there is a clear evidence that early intervention significantly improves the outcome. It is recommended that mucopolysaccharidosis type I (MPS I) is included in th...
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doaj-d2ae06c5f70e471b87b803d42f62c9992020-11-25T00:52:55ZengBMCItalian Journal of Pediatrics1824-72882018-11-0144S2253410.1186/s13052-018-0552-3Newborn screening in mucopolysaccharidosesMaria Alice Donati0Elisabetta Pasquini1Marco Spada2Giulia Polo3Alberto Burlina4Metabolic and Muscular Unit, Regional Reference Centre Expanded Newborn Screening, Meyer Children HospitalMetabolic and Muscular Unit, Regional Reference Centre Expanded Newborn Screening, Meyer Children HospitalDepartment of Pediatrics, Ospedale Regina MargheritaDivision of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children’s Health, University Hospital of PadovaDivision of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children’s Health, University Hospital of PadovaAbstract Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there is a clear evidence that early intervention significantly improves the outcome. It is recommended that mucopolysaccharidosis type I (MPS I) is included in the US newborn screening panel, and this is currently underway in some NBS programs in the world. The key factors in recommending MPS I for inclusion in NBS are the strongly improved efficacy of early-onset therapy and the improved performance of screening tests. Two studies on MPS I screening have been conducted in Italy. In the Tuscany-Umbria pilot NBS, eight infants were confirmed positive, and alpha-l-iduronidase (IDUA) gene molecular analysis showed that seven had either homozygosity or compound heterozygosity for pseudodeficiency alleles. p.Ala79Thr and p.His82Gln changes were demonstrated in four and three infants, respectively, six of which were of African origin. Only one infant had transitory elevation of urine glycosaminoglycans (GAGs) (by quantitative analysis) and she is in follow-up at the time of writing. In the North East Italy experience, there was one affected newborn for 66,491 screened. In this patient treatment started at 1 month of age. In the North East Italy experience the incidence of pseudodeficiency was very high (1:6044), with a high incidence of pseudodeficiency from patients of African origin. A significant problem that is encountered in the follow-up of infants with abnormal NBS and variants of unknown significance (VUS) on molecular analysis results relates to those who cannot be positively identified as either affected or unaffected. Long-term follow-up of these infants, and of those detected with late-onset disorders, will be essential to document the true risks and benefits of NBS. The availability of treatments in MPS II, IVA, VI, and VII with a better clinical outcome when started early in life, and the availability of a combined multiple assay for MPS, may be a prerequisite for new pilot NBS studies in the near future.http://link.springer.com/article/10.1186/s13052-018-0552-3Newborn screeningMucopolysaccharidosesMucopolysaccharidosis type ILysosomal storage disorders |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Maria Alice Donati Elisabetta Pasquini Marco Spada Giulia Polo Alberto Burlina |
spellingShingle |
Maria Alice Donati Elisabetta Pasquini Marco Spada Giulia Polo Alberto Burlina Newborn screening in mucopolysaccharidoses Italian Journal of Pediatrics Newborn screening Mucopolysaccharidoses Mucopolysaccharidosis type I Lysosomal storage disorders |
author_facet |
Maria Alice Donati Elisabetta Pasquini Marco Spada Giulia Polo Alberto Burlina |
author_sort |
Maria Alice Donati |
title |
Newborn screening in mucopolysaccharidoses |
title_short |
Newborn screening in mucopolysaccharidoses |
title_full |
Newborn screening in mucopolysaccharidoses |
title_fullStr |
Newborn screening in mucopolysaccharidoses |
title_full_unstemmed |
Newborn screening in mucopolysaccharidoses |
title_sort |
newborn screening in mucopolysaccharidoses |
publisher |
BMC |
series |
Italian Journal of Pediatrics |
issn |
1824-7288 |
publishDate |
2018-11-01 |
description |
Abstract Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there is a clear evidence that early intervention significantly improves the outcome. It is recommended that mucopolysaccharidosis type I (MPS I) is included in the US newborn screening panel, and this is currently underway in some NBS programs in the world. The key factors in recommending MPS I for inclusion in NBS are the strongly improved efficacy of early-onset therapy and the improved performance of screening tests. Two studies on MPS I screening have been conducted in Italy. In the Tuscany-Umbria pilot NBS, eight infants were confirmed positive, and alpha-l-iduronidase (IDUA) gene molecular analysis showed that seven had either homozygosity or compound heterozygosity for pseudodeficiency alleles. p.Ala79Thr and p.His82Gln changes were demonstrated in four and three infants, respectively, six of which were of African origin. Only one infant had transitory elevation of urine glycosaminoglycans (GAGs) (by quantitative analysis) and she is in follow-up at the time of writing. In the North East Italy experience, there was one affected newborn for 66,491 screened. In this patient treatment started at 1 month of age. In the North East Italy experience the incidence of pseudodeficiency was very high (1:6044), with a high incidence of pseudodeficiency from patients of African origin. A significant problem that is encountered in the follow-up of infants with abnormal NBS and variants of unknown significance (VUS) on molecular analysis results relates to those who cannot be positively identified as either affected or unaffected. Long-term follow-up of these infants, and of those detected with late-onset disorders, will be essential to document the true risks and benefits of NBS. The availability of treatments in MPS II, IVA, VI, and VII with a better clinical outcome when started early in life, and the availability of a combined multiple assay for MPS, may be a prerequisite for new pilot NBS studies in the near future. |
topic |
Newborn screening Mucopolysaccharidoses Mucopolysaccharidosis type I Lysosomal storage disorders |
url |
http://link.springer.com/article/10.1186/s13052-018-0552-3 |
work_keys_str_mv |
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