From diagnosis to treatment of mucopolysaccharidosis type VI: A case report with a novel variant, c.1157C>T (p.Ser386Phe), in ARSB gene |
Yoo, Sukdong
(Division of Medical Genetics and Metabolism, Department of Pediatrics, Pusan National University Children's Hospital)
Lee, Jun (Division of Medical Genetics and Metabolism, Department of Pediatrics, Pusan National University Children's Hospital) Kim, Minji (Division of Medical Genetics and Metabolism, Department of Pediatrics, Pusan National University Children's Hospital) Yoon, Ju Young (Division of Medical Genetics and Metabolism, Department of Pediatrics, Pusan National University Children's Hospital) Cheon, Chong Kun (Division of Medical Genetics and Metabolism, Department of Pediatrics, Pusan National University Children's Hospital) |
1 | Decker C, Yu ZF, Giugliani R, Schwartz IV, Guffon N, Teles EL, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Pediatr Rehabil Med 2010;3:89-100. |
2 | Wichajarn K, Kim J, Yang A, Sohn YB, Lee BH, Yoo HW, et al. Clinical features, molecular analysis, and outcome of ERT in Korean patients with mucopolysaccharidosis type VI. J Korean Soc Inherit Metab Dis 2016;16:24-33. |
3 | Yang X, Wang H, Dong B, Hu B, Hao X, Chen X, et al. Standard liver volume-predicting formulae derived from normal liver volume in children under 18 years of age. Front Pediatr 2021;9:629645. DOI |
4 | Khoury PR, Mitsnefes M, Daniels SR, Kimball TR. Age-specific reference intervals for indexed left ventricular mass in children. J Am Soc Echocardiogr 2009;22:709-14. DOI |
5 | Tomanin R, Karageorgos L, Zanetti A, Al-Sayed M, Bailey M, Miller N, et al. Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: review and classification of published variants in the ARSB gene. Hum Mutat 2018;39:1788-802. DOI |
6 | Horovitz DDG, Leao EKEA, Ribeiro EM, Martins AM, Barth AL, Neri JICF, et al. Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: a resurvey study. Mol Genet Metab 2021;133:94-9. DOI |
7 | Kampmann C, Lampe C, Whybra-Trumpler C, Wiethoff CM, Mengel E, Arash L, et al. Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy. J Inherit Metab Dis 2014;37:269-76. DOI |
8 | Harmatz P, Shediac R. Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment. Front Biosci (Landmark Ed) 2017;22:385-406. DOI |
9 | Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford) 2011;50 Suppl 5:v4-12. DOI |
10 | Prassopoulos P, Cavouras D. CT assessment of normal splenic size in children. Acta Radiol 1994;35:152-4. DOI |
11 | Buyukgebiz B, Eroglu Y, Kovanlikaya I, Sen A, Buyukgebiz A. Maroteaux-Lamy syndrome associated with growth hormone deficiency. J Pediatr Endocrinol Metab 1995;8:305-7. DOI |
12 | Alliston T. Chondroitin sulfate and growth factor signaling in the skeleton: possible links to MPS VI. J Pediatr Rehabil Med 2010;3:129-38. DOI |
13 | Polgreen LE, Miller BS. Growth patterns and the use of growth hormone in the mucopolysaccharidoses. J Pediatr Rehabil Med 2010;3:25-38. DOI |
14 | Quartel A, Hendriksz CJ, Parini R, Graham S, Lin P, Harmatz P. Growth charts for individuals with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). JIMD Rep 2015;18:1-11. DOI |
15 | Cattoni A, Motta S, Masera N, Gasperini S, Rovelli A, Parini R. The use of recombinant human growth hormone in patients with mucopolysaccharidoses and growth hormone deficiency: a case series. Ital J Pediatr 2019;45:93. DOI |