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Peer-reviewedCC BY-NC-NDMolecular genetics and metabolism reports

Mucopolysaccharidosis (MPS) type VI: A case series to assess the efficacy of enzyme replacement therapy and to guide precision-based medicine in the IRISH paediatric cohort

  • Cherian Mathew1
  • Niall Carey1
  • Eithne Losty1
  • Ellen Crushell1
  • Ahmad Monavari1
  • Mohamed Elsammak2
  • Anne Carroll3
  • Ina Knerr1
  1. 1National Centre for Inherited Metabolic Disorders, Children's Health Ireland at Temple Street, Dublin, Ireland
  2. 2Department of Metabolic Biochemistry, Children's Health Ireland at Temple Street, Dublin, Ireland
  3. 3Department of Radiology, Children's Health Ireland at Temple Street, Dublin, Ireland
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Abstract

Aims

To assess the diseasecourse in paediatric patients with mucopolysaccharidosis (MPS) type VI and efficacy of enzyme replacement therapy, to guide precision-based medicine in the Irish context.Methods

This was an ethically approved retrospective case series conducted at Children's Health Ireland (CHI) at Temple Street in Dublin, reviewing our paediatric MPS type VI cohort. Informed consent was obtained. Data sources included hospital patient charts, laboratory results and radiological images.Results

Four patients were included in the study (age 3 years 9 months to 16 years at data cut-off). Age at diagnosis ranged from 2 months to 3 years in our cohort. Presenting features included coarse features, broad ribs, upper airway issues, corneal clouding, hernias, hearing loss and motor delay. All patients were treated with enzyme replacement therapy (ERT) with galsulfase. GAG/creatinine ratio at time of diagnosis ranged between 29.2 - 159 mg/mmol creatinine compared to 12.8-26 mg/mmol creatinine following one year of ERT. Two of the patients had hyperintensities noted on MRI brain but, interestingly, these resolved after one year of ERT. All patients had significant disease burden requiring multidisciplinary team input and follow up by multiple medical specialists.Conclusion

Among the main findings in our study are the resolutions of hyperintensities on MRI brain images in 50% of cases on ERT during childhood. However, disease burden remained high during childhood. Precision-based medicine for MPS type VI requires a multidisciplinary approach, including proactive surveillance. Short abstract: A hospital-based retrospective study was conducted to assess the course of mucopolysaccharidosis (MPS) type VI in four young people, to guide precision-based medicine in the Irish paediatric context. All patients were treated with enzyme replacement therapy (ERT) with galsulfase, essentially leading to normalisation of GAG/creatinine ratios. Two patients had hyperintensities on MRI brain, but, interestingly, these resolved after one year of ERT. All patients had significant disease burden, requiring tailored multidisciplinary treatment including proactive surveillance.

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Cite

BibTeXRIS
BibTeX
@article{mathew2026mucopolysaccharidosis,
  title = {{Mucopolysaccharidosis (MPS) type VI: A case series to assess the efficacy of enzyme replacement therapy and to guide precision-based medicine in the IRISH paediatric cohort}},
  author = {Cherian Mathew and Niall Carey and Eithne Losty and Ellen Crushell and Ahmad Monavari and Mohamed Elsammak and Anne Carroll and Ina Knerr},
  journal = {Molecular genetics and metabolism reports},
  year = {2026},
  month = oct,
  doi = {10.1016/j.ymgmr.2026.101377},
  url = {https://europepmc.org/article/PMC/PMC13717738},
  note = {CC BY-NC-ND},
}
RIS
TY  - JOUR
TI  - Mucopolysaccharidosis (MPS) type VI: A case series to assess the efficacy of enzyme replacement therapy and to guide precision-based medicine in the IRISH paediatric cohort
AU  - Cherian Mathew
AU  - Niall Carey
AU  - Eithne Losty
AU  - Ellen Crushell
AU  - Ahmad Monavari
AU  - Mohamed Elsammak
AU  - Anne Carroll
AU  - Ina Knerr
PY  - 2026
DA  - 2026/10/21
JO  - Molecular genetics and metabolism reports
DO  - 10.1016/j.ymgmr.2026.101377
UR  - https://europepmc.org/article/PMC/PMC13717738
AB  - Aims  To assess the diseasecourse in paediatric patients with mucopolysaccharidosis (MPS) type VI and efficacy of enzyme replacement therapy, to guide precision-based medicine in the Irish context.Methods  This was an ethically approved retrospective case series conducted at Children's Health Ireland (CHI) at Temple Street in Dublin, reviewing our paediatric MPS type VI cohort. Informed consent was obtained. Data sources included hospital patient charts, laboratory results and radiological images.Results  Four patients were included in the study (age 3 years 9 months to 16 years at data cut-off). Age at diagnosis ranged from 2 months to 3 years in our cohort. Presenting features included coarse features, broad ribs, upper airway issues, corneal clouding, hernias, hearing loss and motor delay. All patients were treated with enzyme replacement therapy (ERT) with galsulfase. GAG/creatinine ratio at time of diagnosis ranged between 29.2 - 159 mg/mmol creatinine compared to 12.8-26 mg/mmol creatinine following one year of ERT. Two of the patients had hyperintensities noted on MRI brain but, interestingly, these resolved after one year of ERT. All patients had significant disease burden requiring multidisciplinary team input and follow up by multiple medical specialists.Conclusion  Among the main findings in our study are the resolutions of hyperintensities on MRI brain images in 50% of cases on ERT during childhood. However, disease burden remained high during childhood. Precision-based medicine for MPS type VI requires a multidisciplinary approach, including proactive surveillance. Short abstract: A hospital-based retrospective study was conducted to assess the course of mucopolysaccharidosis (MPS) type VI in four young people, to guide precision-based medicine in the Irish paediatric context. All patients were treated with enzyme replacement therapy (ERT) with galsulfase, essentially leading to normalisation of GAG/creatinine ratios. Two patients had hyperintensities on MRI brain, but, interestingly, these resolved after one year of ERT. All patients had significant disease burden, requiring tailored multidisciplinary treatment including proactive surveillance.
SN  - 2214-4269
ER  -