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Activity of Daily Living in Mucopolysaccharidosis IVA patients: Evaluation of Therapeutic Efficacy

key information

source: Molecular genetics & genomic medicine

year: 2021

authors: Chen H,Khan S,Celik B,Suzuki Y,Ago Y,Tomatsu S

summary/abstract:

Mucopolysaccharidosis IVA (MPS IVA, also called Morquio A syndrome) is caused by a deficiency of N-acetylglucosamine-6-sulfate sulfatase (GALNS) and results in skeletal dysplasia symptoms such as short stature and abnormal gait. Treatments include enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT), but the effects are limited depending on the age of initiation and clinical phenotype. Thus, this study aims to assess the effects of treatments on MPS IVA patients compared to untreated MPS IVA patients and an age-matched control group.

organization: University of Delaware, Newark, DE, USA.

DOI: 10.1002/mgg3.1806

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