Anthropometric data of 14 patients with mucopolysaccharidosis I: Retrospective analysis and efficacy of recombinant human α-l-iduronidase (laronidase)

Tylki‐Szymańska, Anna; Różdzyńska, Agnieszka; Jurecka, Agnieszka; Marucha, Jolanta; Czartoryska, Barbara

doi:10.1016/j.ymgme.2009.08.008

Cited by 33 publications

(25 citation statements)

References 23 publications

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“…Analysis of anthropometric measurements in our patient showed differences when compared with those of the normal population, as described previously in the literature for several types of mucopolysaccharidoses (I, II, VI) [5,22,23]. A significant reduction of body height, different body proportions (shortening of the upper and lower extremities, narrowing of the shoulders, chest and hip), and larger head circumference, as well as head length were observed.…”

Section: Discussionsupporting

confidence: 74%

Musculoskeletal manifestations of mucopolysaccharidosis type VI and effects of enzyme replacement therapy

Marucha

Jurecka²,

Różdżyńska-Świątkowska

et al. 2012

Open Medicine

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AbstractThe aim of this study was to describe the musculoskeletal manifestations of mucopolysaccharidosis VI and to assess the effectiveness of enzyme replacement therapy (ERT) with recombinant human arylsulfatase B on the bone and joint involvement in a patient with a severe phenotype of the disease. Before the initiation of ERT, the patient presented with significant range of motion (ROM) limitations at multiple joints. Flexion contractures were noticeable in all joints. After 48 weeks of ERT, improvement in active and passive shoulder flexion, as well as passive elbow and wrist flexion, was noticed. ROM improvements were reflected in patient’s enhanced self-care.

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Section: Discussionsupporting

confidence: 74%

Musculoskeletal manifestations of mucopolysaccharidosis type VI and effects of enzyme replacement therapy

Marucha

Jurecka²,

Różdżyńska-Świątkowska

et al. 2012

Open Medicine

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“…Several MPS and other disorders characterized by growth failure show a correlation of height for age with phenotypic severity as assessed by genotype or surrogate biomarkers (Decker et al 2010;Tarquinio et al 2010;Tylki-Szymanska et al 2010;de Ruijter et al 2013;Hendriksz et al 2013;Jurecka et al 2013). In the MPS VI population, height for age was previously reported to correspond with the pre-ERT uGAG levels (Swiedler et al 2005;Decker et al 2010).…”

Section: Discussionmentioning

confidence: 99%

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)

et al. 2014

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Background: The skeletal phenotype of mucopolysaccharidosis VI (MPS VI) is characterized by short stature and growth failure.Objective: The purpose of this study was to construct reference growth curves for MPS VI patients with rapidly and slowly progressive disease.Methods: We pooled cross-sectional and longitudinal height for age data from galsulfase (Naglazyme ® , BioMarin Pharmaceutical Inc.), treatment naïve patients (n ¼ 269) who participated in various MPS VI studies, including galsulfase clinical trials and their extension programs, the MPS VI clinical surveillance program (CSP), and the MPS VI survey and resurvey studies, to construct growth charts for the MPS VI population. There were 229 patients included in this study, of which data from 207 patients 25 years of age with 513 height measurements were used for constructing reference growth curves.Results: Height for age growth curves for the 5th, 10th, 25th, 50th, 75th, 90th, and 95th percentiles were constructed for patients with rapidly and slowly progressing disease defined by the pre-enzyme replacement therapy (ERT) uGAG levels of > or 200 mg/mg creatinine. The mean (SD) pre-ERT uGAG levels were 481.0 (218.6) and 97.8 (56.3) mg/mg creatinine for the patients 25 years of age with rapidly (n ¼ 131) and slowly (n ¼ 76) progressing MPS VI disease, respectively. The median growth curves for patients with and >200 mg/mg creatinine were above and below the median (50th percentile) growth curve for the entire MPS VI population.Conclusion: MPS VI growth charts have been developed to assist in the clinical management of MPS VI patients.

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“…Irregularities observed in our patients are characteristic for several other mucopolisaccharidoses (MPS I, II, VI) and are caused by disruption of bone and cartilage development, probably beginning in the fetal phase [2,3,5,10]. Our data shows that anthropometric features of patients with MPS VI significantly differ from the healthy population.…”

Section: Discussionmentioning

confidence: 44%

“…These limitations intensified and became more severe with the patients' age, making patients' self-care more difficult or even impossible. MPS VI patients, similarily to patients with other MPS disease, require introduction of a proper rehabilitation program during the ERT [10]. Practical improvement of joint elasticity achieved by ERT must be enhanced by increased muscle strength achieved by active physical rehabilitation [10].…”

Section: Discussionmentioning

confidence: 99%

“…Osteoarticular manifestations of MPS disease are progressive changes that limit movements with some being present from the first years of life onwards [1,[8][9][10]. Both gross and fine motor delays are most evident in patients' locomotor abilities and these abnormalities contribute to a significant inability to perform simple acts of daily living.…”

Section: Introductionmentioning

confidence: 99%

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Natural history of Polish patients with mucopolysaccharidosis type VI

Jurecka¹,

Różdzyńska

Marucha

et al. 2011

Open Medicine

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AbstractThe aim of the study was to describe the natural history, anthropometric features, range of motion (ROM) and molecular characteristics of Polish patients with mucopolysaccharidosis (MPS) VI. Clinical heterogeneity was observed and two major clinical phenotypes of the disease were distinguished, rapidly advancing and relatively attenuated. Two patients developed symptoms early in life presenting with short stature, significant skeletal malformations and other clinical abnormalities. In two other patients, height was only slightly decreased and MPS features developed later in the course of the disease. All patients had similar characteristics at the time of birth but showed significant differences in body proportions when compared with the healthy population. Differences between healthy and affected children increased with age and were reflected in phenotypes. Analysis of ROM showed impairments at multiple joints, although to a various degree in different patients. Restriction in upper extremity ROM was observed since the second year of life, while restriction in lower extremity ROM developed later and influenced stereotype of walking. These limitations intensified with the patients’ age, which made self-care more difficult or impossible. The molecular analysis revealed that the milder phenotype may be associated with the R152W mutation, which suggests a specific genotype-phenotype correlation.

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Anthropometric data of 14 patients with mucopolysaccharidosis I: Retrospective analysis and efficacy of recombinant human α-l-iduronidase (laronidase)

Cited by 33 publications

References 23 publications

Musculoskeletal manifestations of mucopolysaccharidosis type VI and effects of enzyme replacement therapy

Musculoskeletal manifestations of mucopolysaccharidosis type VI and effects of enzyme replacement therapy

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)

Natural history of Polish patients with mucopolysaccharidosis type VI

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