Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux–Lamy syndrome ( MPS VI )

2021 ◽  
Author(s):  
Dina Marek‐Yagel ◽  
Aviva Eliyahu ◽  
Alvit Veber ◽  
Nechama Shalva ◽  
Amit Mary Philosoph ◽  
...  
Keyword(s):  
Mps Vi ◽  
Arsb Gene

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.

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: A review of published classified variants in the ARSB gene

2018 ◽  
Vol 123 (2) ◽  
pp. S21-S22
Author(s):  
Mitch Bailey ◽  
Litsa Karageorgos ◽  
Rosella Tomanin ◽  
Moeenaldeen AlSayed ◽  
Emanuela Izzo ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type Vi ◽  
Mps Vi ◽  
Arsb Gene

Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI)

2015 ◽  
Vol 115 (1) ◽  
pp. 41-47 ◽  
Author(s):  
Yew Sing Choy ◽  
Kaustuv Bhattacharya ◽  
Shanti Balasubramaniam ◽  
Michael Fietz ◽  
Antony Fu ◽  
...  
Keyword(s):  
Multidisciplinary Approach ◽  
Early Recognition ◽  
Mps Vi ◽  
Mucopolysaccharidosis Vi

scholarly journals Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis

2010 ◽  
Vol 99 (4) ◽  
pp. 346-350 ◽  
Author(s):  
María Verónica Muñoz-Rojas ◽  
Dafne Dain Gandelman Horovitz ◽  
Laura Bannach Jardim ◽  
Marcia Raymundo ◽  
Juan Clinton Llerena ◽  
...  
Keyword(s):  
Intrathecal Administration ◽  
Mps Vi

scholarly journals Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Mehmet Umut Akyol ◽  
◽  
Tord D. Alden ◽  
Hernan Amartino ◽  
Jane Ashworth ◽  
...  
Keyword(s):  
Mps Vi

scholarly journals Avaliação do equilíbrio e risco de queda em pacientes com mucopolissacaridose VI

2018 ◽  
Vol 19 (4) ◽  
pp. 500
Author(s):  
Ângela Hare Leite Rodrigues Dos Anjos ◽  
Bárbara Bernardo Rinaldo da Silva Figueirêdo ◽  
Dominique Babini Albuquerque Cavalcanti
Keyword(s):  
Mps Vi

Introdução: A Mucopolissacaridose VI é uma doença rara, hereditária, com mutação no gene ARSB, que provoca complicações multissistêmicas com deformidades osteomusculares que podem dificultar o equilíbrio estático e dinâmico. Objetivo: Avaliar o equilíbrio e o risco de queda em pacientes com Mucopolissacaridose VI (MPS VI). Métodos: Trata-se de um estudo observacional descritivo transversal, do tipo série de casos, realizado na Associação Pernambucana de Mucopolissacaridoses, cuja amostra foi constituída por 5 pacientes que recebem tratamento fisioterapêutico no local, de ambos os gêneros, com faixa etária de 6 a 39 anos, e diagnóstico de MPS VI. Foi utilizada uma ficha de avaliação fisioterapêutica elaborada pelas pesquisadoras para avaliar aspectos sociodemográficos e clínicos dos pacientes e em seguida, foi aplicado o Índice de Tinetti. Os dados foram apresentados através de tabelas e figuras, contendo as frequências absoluta e relativa, média e desvio-padrão ou mediana e intervalo interquartil. Resultados: Dos casos estudados, a idade média foi de 11 anos, 60% eram do sexo masculino, todos os avaliados apresentaram baixa estatura, com altura média de 115,0 cm e diferença média de 0,5 cm entre a altura dos membros inferiores, além de reduzidas pontuações no Índice de Tinetti, com 80% apresentando alto risco de quedas e 20% apresentando moderado risco de quedas. Conclusão: Foi possível evidenciar o impacto negativo das alterações osteomioarticulares da MPS VI no equilíbrio estático e dinâmico e na marcha dos portadores, além do importante risco de quedas.Palavras-chave: mucopolissacaridose VI, equilíbrio postural, marcha. 

scholarly journals Enzyme replacement therapy in mice lacking arylsulfatase B targets bone-remodeling cells, but not chondrocytes

2020 ◽  
Vol 29 (5) ◽  
pp. 803-816 ◽  
Author(s):  
Gretl Hendrickx ◽  
Tatyana Danyukova ◽  
Anke Baranowsky ◽  
Tim Rolvien ◽  
Alexandra Angermann ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Bone Remodeling ◽  
Cell Types ◽  
Skeletal Growth ◽  
Enzyme Replacement ◽  
Mps Vi ◽  
Arylsulfatase B ◽  
The Impact ◽  
Deficient Mice

Abstract Mucopolysaccharidosis type VI (MPS-VI), caused by mutational inactivation of the glycosaminoglycan-degrading enzyme arylsulfatase B (Arsb), is a lysosomal storage disorder primarily affecting the skeleton. We have previously reported that Arsb-deficient mice display high trabecular bone mass and impaired skeletal growth. In the present study, we treated them by weekly injection of recombinant human ARSB (rhARSB) to analyze the impact of enzyme replacement therapy (ERT) on skeletal growth and bone remodeling. We found that all bone-remodeling abnormalities of Arsb-deficient mice were prevented by ERT, whereas chondrocyte defects were not. Likewise, histologic analysis of the surgically removed femoral head from an ERT-treated MPS-VI patient revealed that only chondrocytes were pathologically affected. Remarkably, a side-by-side comparison with other cell types demonstrated that chondrocytes have substantially reduced capacity to endocytose rhARSB, together with low expression of the mannose receptor. We finally took advantage of Arsb-deficient mice to establish quantification of chondroitin sulfation for treatment monitoring. Our data demonstrate that bone-remodeling cell types are accessible to systemically delivered rhARSB, whereas the uptake into chondrocytes is inefficient.

scholarly journals Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses

Diagnostics ◽  
2019 ◽  
Vol 9 (4) ◽  
pp. 148 ◽  
Author(s):  
Hsiang-Yu Lin ◽  
Chung-Lin Lee ◽  
Pao Chin Chiu ◽  
Dau-Ming Niu ◽  
Fuu-Jen Tsai ◽  
...  
Keyword(s):  
Body Mass Index ◽  
Body Mass ◽  
Growth Retardation ◽  
Clinical Manifestations ◽  
Mps Ii ◽  
Mps Vi ◽  
Z Scores ◽  
Mps Iva ◽  
Mps I ◽  
Mps Iii

Background: Children with mucopolysaccharidosis (MPS) generally appear unaffected at birth but may develop multiple clinical manifestations including profound growth impairment as they grow older. Each type of MPS has a variable age at onset and variable rate of progression, however, information regarding growth in Asian children is limited. Methods: This retrospective analysis included 129 Taiwanese patients with MPS (age range, 0.7 to 19.5 years, median age, 7.9 years) from eight medical centers in Taiwan from January 1996 through December 2018. Results: The mean z scores for the first recorded values of height, weight, and body mass index in the patients’ medical records were −4.25, −1.04, and 0.41 for MPS I (n = 9), −2.31, 0.19, and 0.84 for MPS II (n = 49), −0.42, 0.08, and −0.12 for MPS III (n = 27), −6.02, −2.04, and 0.12 for MPS IVA (n = 30), and −4.46, −1.52, and 0.19 for MPS VI (n = 14), respectively. MPS IVA had the lowest mean z scores for both height and weight among all types of MPS, followed by MPS VI, MPS I, MPS II, and MPS III, which showed the mildest growth retardation. Both z scores for height and weight were negatively correlated with increasing age for all types of MPS (p < 0.01). Of 32 patients younger than 5 years of age, 16 (50%), and 23 (72%) had positive z scores of height and weight, respectively. A substantial number of younger patients with MPS I, II, III, and IVA had a positive height z score. The median age at diagnosis was 3.9 years (n = 115). Conclusions: The patients with MPS IVA had the most significant growth retardation among all types of MPS, followed by MPS VI, MPS I, MPS II, and MPS III. The height and weight of the MPS patients younger than 2–5 years of age were higher than those of healthy individuals, however, their growth significantly decelerated in subsequent years. Understanding the growth curve and potential involved in each type of MPS may allow for early diagnosis and timely management of the disease, which may improve the quality of life.

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