Articles

Evaluate the Clinical and Laboratory Manifestations of Children With Type 6 of Mucopolysaccharidosis Before and After Enzyme Therapy: A Quasi-Experimental One Group Study

Abstract

The purpose of this study is to evaluate the clinical and laboratory manifestations of children with mucopolysaccharidosis type 6 before and after enzyme therapy. In this quasi-experimental study, 8 patients with MPS-6 referred to the pediatric endocrinology department of Imam Reza Hospital in Mashhad were followed up for 12 months. The level of urinary glycosaminoglycan was measured to check the response to the treatment. The range of motion of the shoulder and elbow joints was evaluated using a goniometer, and abdominal ultrasound was performed to check the size of the liver and spleen in the midclavicular line. The 6-minute walking test and the 3-minute stair climbing test were performed for the patients at the mentioned times. The height and weight of the patients were also measured, and echocardiography was performed. Then patients underwent weekly enzyme treatment. One of the patients (seventh patient) was excluded from the study. Patients were treated with enzyme from the beginning of the study. The patients were evaluated at 12 months later. Statistical analysis showed that changes in urinary GAG level, height, weight, changes in 6-minute walk and range of motion (extension and flexion) of the shoulder were significant (P<0.05). Changes in liver and spleen size compared to height, climbing stairs, corneal opacity and heart changes after 12 months of enzyme therapy were not significant. It is suggested that even though this method of treatment is not definitive, that can be continued to improve the current condition of the patient.

1. Shafaat S M, Hashemi M, Majd A, Abiri M, Zeinali S. Genetic Assessment of Mucopolysaccharidosis Type IV and the First Pathological Mutation of c.313A>G in the Iranian Population. Intern Med Today 2020;26:182-91.
2. Lakzaei J, Tavasoli A, Araghian Mojard F, Jouybari L, Sanagoo A. Case Report of Child with Mucopolysaccharidosis Type VI (Maroteaux-lamy) Syndrome. Navid no 2018;20:44-50.
3. Hashemi-Tayer A, Talebi R. Mucopolysaccharidoses (Maroteaux-Lamy): A case report. J Arak Uni Med Sci 2012;15:120-6.
4. Harmatz P, Hendriksz CJ, Lampe C, McGill JJ, Parini R, Leão-Teles E, et al. The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome); MPS VI Study Group. Mol Genet Metab 2017;122:107-12.
5. Horovitz DD, Acosta A, Giuliani LR, Ribeiro EM. Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children. Mol Genet Metab Rep 2015;5:19-25.
6. Rezaei L, Aghaei N. Ocular Manifestation in a Rare Case of Mucopolysaccharidosis VI. J Mazandaran Univ Med Sci 2021;31:161-6.
7. Khodabandeh F, Alishahi R, Yahyavi Koochaksaraei F. Mucopolysaccharidosis type I: A case report. J Sabzevar Univ Med Sci 2017;25:519-27.
8. Santamaria R, Chabás A, Coll MJ, Miranda CS, Vilageliu L, Grinberg D. Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: Possible common origin for the prevalent p.R59H mutation among gypsies. Hum Mutat 2006;27:1060.
9. Lei HL, Ye J, Qiu WJ, Zhang HW, Han LS, Wang Y, et al. Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis. World J Pediatr 2012;8:359-62.
10. Gucev ZS, Tasic V, Jancevska A, Zafirovski G, Kremensky I, Sinigerska I, et al. Novel beta-galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts. Am J Med Genet A 2008;146A:1736-40.
11. Paschke E, Milos I, Kreimer-Erlacher H, Hoefler G, Beck M, Hoeltzenbein M, et al. Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: Three novel point mutations and high correlation of mutation W273L with Morquio disease type B. Hum Genet 2001;109:159-66.
12. Portal Rasmi Kementerian Kesihatan Malaysia. Guideline for treatment of lysosomal storage diseases by enzyme replacement therapy in Malaysia. (Accessed at: https://www.moh.gov.my/moh/resources/Penerbitan/Perkhidmatan%20OnG%20&%20Ped/GEN_RARE%20DISEASE%20/2._Guidelines_for_Treatment_of_Lysosomal_Storage_Diseases_by_Enzyme_Replacement_Therapy_in_Malaysia_pdf)
13. Rovelli AM. The controversial and changing role of haematopoietic cell transplantation for lysosomal storage disorders: an update. Bone Marrow Transplant 2008;41:S87-9.
14. D'Avanzo F, Zanetti A, De Filippis C, Tomanin R. Mucopolysaccharidosis Type VI, an Updated Overview of the Disease. Int J Mol Sci 2021;22:13456.
15. Kim KH, Decker C, Burton BK. Successful management of difficult infusion-associated reactions in a young patient with mucopolysaccharidosis type VI receiving recombinant human arylsulfatase B (galsulfase [Naglazyme]). Pediatrics 2008;121:e714-7.
16. Brunelli MJ, Atallah AN, Silva EM. Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI. Cochrane Database Syst Rev 2021;9:CD009806.
17. Lin HY, Chuang CK, Wang CH, Chien YH, Wang YM, Tsai FJ, et al. Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series. Mol Genet Metab Rep 2016;7:63-9.
18. Harmatz P, Ketteridge D, Giugliani R, Guffon N, Teles EL, Miranda MC, et al. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics 2005;115:e681-9.
19. Pitz S, Ogun O, Arash L, Miebach E, Beck M. Does enzyme replacement therapy influence the ocular changes in type VI mucopolysaccharidosis? Graefes Arch Clin Exp Ophthalmol 2009;247:975-80.
20. Harmatz PR, Lampe C, Parini R, Sharma R, Teles EL, Johnson J, et al. Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program. J Inherit Metab Dis 2019;42:519-26.
21. Giugliani R, Lampe C, Guffon N, Ketteridge D, Leão-Teles E, Wraith JE, et al. Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study. Am J Med Genet A 2014;164A:1953-64.
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IssueVol 62 No 1 (2024) QRcode
SectionArticles
DOI https://doi.org/10.18502/acta.v62i1.16880
Keywords
Clinical manifestations Laboratory manifestations Children Type 6 of mucopolysaccharidosis Enzyme therapy
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How to Cite
1.
Ghavidel Shoorabi A, Ghavidel Shoorabi M, Vakili R, Ghasemi A, Ghobadi M, Basiri Moghaddam M. Evaluate the Clinical and Laboratory Manifestations of Children With Type 6 of Mucopolysaccharidosis Before and After Enzyme Therapy: A Quasi-Experimental One Group Study. Acta Med Iran. 2024;62(1):15-21.