ArticleJournal of inherited metabolic disease2014
Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease).
Article in Journal of inherited metabolic disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 23 citations in OpenAlex.
- Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 y.Pediatric research · 2015Trial
- Growth Patterns in MPS IVA and MPS IIIA: A Longitudinal Single-Center Study.Journal of clinical medicine · 2026Article
- Review
- Impact of hematopoietic stem cell transplantation on growth outcomes in mucopolysaccharidosis: a systematic review.Clinical and experimental pediatrics · 2025Article
- Sanfilippo syndrome: consensus guidelines for clinical care.Orphanet journal of rare diseases · 2022Review
- Comparison of growth dynamics in different types of MPS: an attempt to explain the causes.Orphanet journal of rare diseases · 2022Article
- Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses.Diagnostics (Basel, Switzerland) · 2019Article
- Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III).Orphanet journal of rare diseases · 2019Article
- Dental-craniofacial manifestation and treatment of rare diseases.International journal of oral science · 2019Review
- Growth impairment in mucopolysaccharidoses.Molecular genetics and metabolism · 2018Review
- The factors affecting lipid profile in adult patients with Mucopolysaccharidosis.Molecular genetics and metabolism reports · 2017Article
- A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment.Medicine · 2017Review
- Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome).JIMD reports · 2015Article
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Authors and funding
8 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMucopolysaccharidosis III (MPS III), known as Sanfilippo disease, is a lysosomal storage disorder mainly characterized by progressive neurodegeneration with cognitive decline and relatively attenuated somatic signs and symptoms. Although short stature is invariably present in patients with the other mucopolysaccharidoses, it has not been sufficiently addressed in MPS III. The aim of this study was to investigate growth data of a large Dutch MPS III cohort in order to construct growth charts for MPS III patients.
methodsHeight, weight, head circumference (HC), and body mass index (BMI) data from 118 MPS III patients were used to construct reference curves, using the lambda, mu, sigma (LMS) method. Genotype-group comparisons for height standard deviation scores (SDS) were performed by Kruskal-Wallis analysis for different age groups.
resultsBirth weight and length were within normal ranges for gestational age and showed a significantly stunted growth from age 6 years onward. Mean final heights were 169.7 cm (-2.0 SDS) and 165.4 cm (-0.84 SDS) for adult male and female, patients, respectively. Phenotypic severity, as assessed by genotyping, correlated with growth pattern and final height. In addition, mean BMI and HC SDS were significantly higher when compared with Dutch standards for both boys and girls.
conclusionsGrowth in MPS III is stunted mainly in patients with the severe phenotype. We provide disease-specific growth references that can be used for clinical management of MPS III patients and may be of value for future treatment studies.
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