Related Experiment Video
Updated: May 6, 2026
Metabolic Glycoengineering of Sialic Acid Using N-acyl-modified Mannosamines
Published on: November 25, 2017
Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease)
J de Ruijter1, L Broere, M F Mulder
1Department of Pediatrics and Amsterdam Lysosome Centre 'Sphinx', Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Background:
Mucopolysaccharidosis 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.
Methods:
Height, 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.
Results:
Birth 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.
Conclusions:
Growth 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.
Insights
Growth in Mucopolysaccharidosis III (MPS III), or Sanfilippo disease, is stunted from age six, particularly in severe phenotypes. Disease-specific growth charts are now available for clinical management and future research.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Mucopolysaccharidosis III (MPS III), or Sanfilippo disease, is a lysosomal storage disorder causing progressive neurodegeneration.
- While short stature is common in other MPS types, it's understudied in MPS III.
- This study addresses the need for growth data in MPS III patients.
Purpose of the Study:
- To investigate growth patterns in a large Dutch MPS III cohort.
- To construct disease-specific growth charts for MPS III patients.
- To correlate growth with genotype and phenotypic severity.
Main Methods:
- Utilized height, weight, and head circumference data from 118 MPS III patients.
- Constructed reference curves using the lambda, mu, sigma (LMS) method.
- Performed genotype-group comparisons for height standard deviation scores (SDS) via Kruskal-Wallis analysis.
Main Results:
- Birth measurements were normal, but growth stunting began around age six.
- Mean final heights were 169.7 cm (male) and 165.4 cm (female).
- Higher BMI and head circumference SDS were observed compared to Dutch standards; growth correlated with phenotypic severity.
Conclusions:
- Growth in MPS III is significantly stunted, especially in severe phenotypes.
- Disease-specific growth references are provided for clinical management.
- These references may aid future MPS III treatment studies.
More Related Videos
06:38In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
Published on: March 7, 2025
08:56Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
Published on: October 10, 2025
