ArticleActa paediatrica (Oslo, Norway : 1992)2018
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.
Article 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 7 papers.
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- How not to Misdiagnose the Mild Forms of Mucopolysaccharidosis and Juvenile Idiopathic Arthritis.Current pediatric reviews · 2026Article
- Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.Biomolecules · 2025Review
- Radiographic assessment of mucopolysaccharidoses: A pictorial review.World journal of clinical pediatrics · 2025Review
- Mucopolysaccharidosis Type 1 among Children-Neuroradiological Perspective Based on Single Centre Experience and Literature Review.Metabolites · 2023Article
- Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities.Medicina (Kaunas, Lithuania) · 2022Article
- Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I.Archives of disease in childhood · 2021Observational
- Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights.BMC endocrine disorders · 2018Article
Corrections and comments
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Authors and funding
11 authors at 11 institutions in 8 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimThe aim of this study was to develop an algorithm to prompt early clinical suspicion of mucopolysaccharidosis type I (MPS I).
methodsAn international working group was established in 2016 that comprised 11 experts in paediatrics, rare diseases and inherited metabolic diseases. They reviewed real-world clinical cases, selected key signs or symptoms based on their prevalence and specificity and reached consensus about the algorithm. The algorithm was retrospectively tested.
resultsAn algorithm was developed. In patients under two years of age, kyphosis or gibbus deformity were the key symptoms that raised clinical suspicion of MPS I and in those over two years they were kyphosis or gibbus deformity, or joint stiffness or contractures without inflammation. The algorithm was tested on 35 cases, comprising 16 Hurler, 10 Hurler-Scheie, and nine Scheie patients. Of these 35 cases, 32 (91%) - 16 Hurler, nine Hurler-Scheie and seven Scheie patients - would have been referred earlier if the algorithm had been used.
conclusionThe expert panel developed and tested an algorithm that helps raise clinical suspicion of MPS I and would lead to a more prompt final diagnosis and allow earlier treatment.
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Registered trials
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