ReviewActa paediatrica (Oslo, Norway : 1992)2018
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
Review in Acta paediatrica (Oslo, Norway : 1992), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up.Orphanet journal of rare diseases · 2024Article
- Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses.Orphanet journal of rare diseases · 2024Review
- Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I.International journal of neonatal screening · 2023Article
- Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans.Diagnostics (Basel, Switzerland) · 2021Article
- Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I.Archives of disease in childhood · 2021Observational
- Ethical Issues in Care and Treatment of Neuronal Ceroid Lipofuscinoses (NCL)-A Personal View.Frontiers in neurology · 2021Review
- [Evaluation and perspective of 20 years of neonatal screening in Galicia. Program results.]Revista espanola de salud publica · 2020Article
- Mucopolysaccharidosis Type I.Diagnostics (Basel, Switzerland) · 2020Review
- Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.Clinical genetics · 2019Article
- Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights.BMC endocrine disorders · 2018Article
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Authors and funding
12 authors.
Funding
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Abstract
aimMucopolysaccharidosis type I is a lysosomal storage disorder that can result in significant disease burden, disability and premature death, if left untreated. The aim of this review was to elaborate on the diagnosis of mucopolysaccharidosis type I and the pros and cons of newborn screening.
methodsAn international working group was established to discuss ways to improve the early diagnosis of mucopolysaccharidosis type I. It consisted of 13 experts in paediatrics, rare diseases and inherited metabolic diseases from Europe and the Middle East.
resultsIt is becoming increasingly clearer that the delay between symptom onset and clinical diagnosis is considerable for mucopolysaccharidosis type I and other rare lysosomal storage disorders, despite numerous awareness campaigns since therapies became available. Diagnosis currently depends on recognising the signs and symptoms of the disease. The practice of newborn screening, which is being explored by pilot programmes around the world, enables early diagnosis and consequently early treatment. However, these studies have highlighted numerous new problems and pitfalls that must be faced before newborn screening becomes generally available.
conclusionNewborn screening for mucopolysaccharidosis type I offers the potential for early diagnosis and early pre-symptomatic treatment, but existing hurdles need to be overcome.
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