Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy

2004 ◽  
Vol 23 (3) ◽  
pp. 229-233 ◽  
Author(s):  
L. Karageorgos ◽  
P. Harmatz ◽  
J. Simon ◽  
A. Pollard ◽  
P. R. Clements ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Mutational Analysis ◽  
Mucopolysaccharidosis Type ◽  
Enzyme Replacement ◽  
Mucopolysaccharidosis Type Vi

Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI

Bone ◽  
1997 ◽  
Vol 21 (5) ◽  
pp. 425-431 ◽  
Author(s):  
S. Byers ◽  
J.D. Nuttall ◽  
A.C. Crawley ◽  
J.J. Hopwood ◽  
K. Smith ◽  
...  
Keyword(s):  
Bone Formation ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Mucopolysaccharidosis Type ◽  
Enzyme Replacement ◽  
Mucopolysaccharidosis Type Vi ◽  
Feline Model

scholarly journals Early Diagnosis and Results of Enzyme Replacement Therapy in the Patient with Mucopolysaccharidosis Type VI: Clinical Case

2021 ◽  
Author(s):  
Dmitry V. Ivanov ◽  
Anna I. Ostrun ◽  
Vladimir M. Kenis ◽  
Tatiana V. Markova ◽  
Ekaterina Yu. Zakharova
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Clinical Case ◽  
Mucopolysaccharidosis Type ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Mucopolysaccharidosis Type Vi ◽  
Mps Vi ◽  
Arylsulfatase B ◽  
Arsb Gene

Background. Mucopolysaccharidosis type VI (MPS VI, Maroteaux–Lamy syndrome) is rare autosomal-recessive multisystem disease, one of the group of lysosomal storage diseases. The MPS VI pathogenesis is determined by arylsulfatase B enzyme deficiency caused by mutations in the ARSB gene. There are only few published clinical examples of this disease that covers the results of early enzyme replacement therapy (ERT) onset.Clinical case description. The child was suspected to have lysosomal storage disease at the age of 1.5 months, it was based on microscopic analysis of blood smears: Alder abnormality was revealed (granulations and red-violet inclusions in neutrophils, monocytes, lymphocytes cytoplasm). The diagnosis was confirmed at the age of 3 months: increased glycosaminoglycans (GAGs) concentration in the urine, arylsulfatase B activity decrease in dried blood spots, and pathogenic variant c.943C>T (p. R315X) in the ARSB gene in homozygous state were revealed. ERT with galsulfase was started at the age of 7 months. There was decrease in excretion of GAGs in urine to normal level after 9 and 15 months of therapy. Normal growth and body proportions for the patient’s age were determined 3 years after continuous ERT. However, there was progression of multiple dysostosis and joint stiffness, as well as eyes lesion.Conclusion. Early ERT onset cannot completely stop MPS VI progression but it allows to reduce the severity of several symptoms and improves patient’s quality of life.

scholarly journals Anti-TNF-Alpha Therapy Enhances the Effects of Enzyme Replacement Therapy in Rats with Mucopolysaccharidosis Type VI

PLoS ONE ◽  
2011 ◽  
Vol 6 (8) ◽  
pp. e22447 ◽  
Author(s):  
Efrat Eliyahu ◽  
Theodore Wolfson ◽  
Yi Ge ◽  
Karl J. Jepsen ◽  
Edward H. Schuchman ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Tnf Alpha ◽  
Mucopolysaccharidosis Type ◽  
Enzyme Replacement ◽  
Mucopolysaccharidosis Type Vi ◽  
Alpha Therapy
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