Up to five years experience with 11 mucopolysaccharidosis type VI patients

Maroteaux–Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is a rare progressive metabolic disorder characterized by coarse facial features, hepatosplenomegaly, restrictive pulmonary function, cardiac abnormalities and stiff joints. The disease is caused by a deficiency of the lysosomal enzyme...

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Bibliographic Details
Published in:Molecular genetics and metabolism 2013-05, Vol.109 (1), p.70-76
Main Authors: Brands, Marion M.M.G., Oussoren, Esmee, Ruijter, George J.G., Vollebregt, Audrey A.M., van den Hout, Hannerieke M.P., Joosten, Koen F.M., Hop, Wim C.J., Plug, Iris, van der Ploeg, Ans T.
Format: Article
Language:English
Subjects:
Adolescent
Child
Child, Preschool
Enzyme Replacement Therapy
Female
Follow-Up Studies
Glycosaminoglycans - metabolism
Humans
Lysosomal storage disorders
Male
Maroteaux–Lamy syndrome
Mucopolysaccharidosis type VI
Mucopolysaccharidosis VI - enzymology
Mucopolysaccharidosis VI - genetics
Mucopolysaccharidosis VI - physiopathology
Mucopolysaccharidosis VI - therapy
N-Acetylgalactosamine-4-Sulfatase - genetics
N-Acetylgalactosamine-4-Sulfatase - metabolism
N-Acetylgalactosamine-4-Sulfatase - therapeutic use
Prospective Studies
Respiratory Function Tests
Young Adult
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Summary:Maroteaux–Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is a rare progressive metabolic disorder characterized by coarse facial features, hepatosplenomegaly, restrictive pulmonary function, cardiac abnormalities and stiff joints. The disease is caused by a deficiency of the lysosomal enzyme N-acetyl galactosamine 4-sulfatase which leads to glycosaminoglycan (GAG) storage in various tissues. It presents as a clinical spectrum with varying disease progressions and severities. While the phases I/II/III studies proved the effectiveness of enzyme-replacement therapy (ERT) with recombinant human arylsulfatase B, long-term data are still scarce. Over treatment periods ranging from 1.3 to 5.4years, this prospective open-label follow-up study in 11 Dutch mucopolysaccharidosis type VI patients (age 2–18years) showed that ERT had significant positive effects on cardiac-wall diameters (IVSd and LVMI), left and right shoulder flexions (p
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2013.02.013