Enzyme replacement therapy for mucopolysaccharidosis type IV (Morquio syndrome)

Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family

“…Lysosomal storage diseases such as MPS IV can be treated with either enzyme replacement therapy (ERT), pharmaceutical chaperones, substrate reduction, or hematopoietic stem cell transplantation (HSCT) [ 25 , 26 , 27 ]. In ERT the patients are treated with recombinant enzymes approved by US Food and Drug Administration (FDA).…”

“…As metabolic disorders are congenital and associated with irreversible damage to the cells and tissues such as the bones, such as the bones, the physical manifestations may be too advanced at the time of clinical diagnosis to be reversed by the treatment. A timely and an accurate diagnosis of MPS IVA followed by ERT has been reported to show improvement in mobility as measured by the 6-min walking test [ 26 ]. HSCT on the other hand is a comparatively new treatment showing durable and normal activity of the enzyme, which has been reported to increase the density of lumber bone mineral, improved movement and reduction of narrow airways.…”

Mucopolissacaridose Iv: Uma Revisão Integrativa Das Principais Manifestações Clínicas

“…A mucopolissacaridose (MPS) é um distúrbio de depósito lisossômico caracterizado pela deficiência de uma enzima envolvida na degradação de macromoléculas extracelulares denominadas glicosaminoglicanos (GAGs) 1 . Essas macromoléculas são importantes para a estrutura do tecido conjuntivo e cartilagem, além de terem papel significativo na regulação de algumas cascatas bioquímicas (coagulação, resposta imune e sistema complemento) 2 .…”