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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

Year: 2026

Type: article

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.

Source: Molecular Genetics and Metabolism Reports

DOI: 10.1016/j.ymgmr.2026.101377