Article
Skeletal phenotype amelioration in mucopolysaccharidosis VI requires intervention at the earliest stages of postnatal development.
JCI insight - 8 Nov 2023
Hwang-Wong Elizabeth, Amar Gabrielle, Das Nanditha, Zhang Xiaoli, Aaron Nina, Gale Kirsten, Rothman Nyanza, Fante Massimo, Baik Andrew, Bhargava Ajay, Fricker Arun, McAlister Michelle, Rabinowitz Jeremy, Lees-Shepard John, Nannuru Kalyan, Economides Aris N, Cygnar Katherine D
Abstract excerpt
Mucopolysaccharidosis VI (MPS VI) is a rare lysosomal disease arising from impaired function of the enzyme arylsulfatase B (ARSB). This impairment causes aberrant accumulation of dermatan sulfate, a glycosaminoglycan (GAG) abundant in cartilage. While clinical severity varies along with age at first symptom manifestation, MPS VI usually presents early and strongly affects the skeleton. Current enzyme replacement...
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