Top

Orphanet Journal of Rare Diseases

Published in:

Open Access 01-12-2022 | Research

Comparison of growth dynamics in different types of MPS: an attempt to explain the causes

Authors: Agnieszka Różdżyńska-Świątkowska, Anna Zielińska, Anna Tylki-Szymańska

Published in: Orphanet Journal of Rare Diseases | Issue 1/2022

Abstract

Background

Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by deficient activity of enzymes responsible for the catabolism of glycosaminoglycans (GAGs), resulting in progressive damage to various tissues and organs. Affected individuals present with skeletal deformities, bone growth impairment, joint stiffness and frequently mental retardation.

Results

The objective of the study was to summarise over 30 years of observations of the growth dynamics in patients with different types of MPS, performed at the Children’s Memorial Health Institute (CMHI, Warsaw, Poland). A retrospective analysis of anthropometric data collected from 1989 to 2020 was performed for 195 patients with MPS I, MPS II, MPS III, MPS IVA and MPS VI. Mean values for birth body length were statistically significantly greater than in the general population. The mean z-scores for other MPS groups showed that until the 24th month of life, the growth pattern for all patients was similar, and the average z-scores for body height were greater than in reference charts. Afterwards, growth patterns began to differentiate for MPS groups.

Conclusions

The long-term follow up showed that the growth pattern in patients with all types of mucopolysaccharidoses significantly deviates from the general population. Patients with MPS IVA had the most severe growth impairments compared to other patients in the study group. Neuropathic MPS I and II demonstrated severe growth impairments compared to other patients in this study. Patients with MPS III showed the mildest growth impairments compared to other MPS patients and reached the 3rd percentile last.

Neufeld EMJ. The mucopolysaccharidoses. In: Schriver CRBA, Sly WS, Walle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001. p. 3421–52.

Oussoren E, Brands M, Ruijter GJG, van der Ploeg AT, Reuser AJJ. Bone, joint and tooth development in mucopolysaccharidoses: relevance to therapeutic options. BBA Mol Basis Dis. 2011;1812(11):1542–56.CrossRef

Tylki-Szymanska A, Rozdzynska A, Jurecka A, Marucha J, Czartoryska B. Anthropometric data of 14 patients with mucopolysaccharidosis I: retrospective analysis and efficacy of recombinant human alpha-l-iduronidase (laronidase). Mol Genet Metab. 2010;99(1):10–7.CrossRef

Rozdzynska-Swiatkowska A, Jurecka A, Zuber Z, Tylki-Szymanska A. Can macrosomia or large for gestational age be predictive of mucopolysaccharidosis type I, II and VI? Pediatr Neonatol. 2016;57(3):181–7.CrossRef

Rozdzynska-Swiatkowska A, Jurecka A, Cieslik J, Tylki-Szymanska A. Growth patterns in children with mucopolysaccharidosis I and II. World J Pediatr. 2015;11(3):226–31.CrossRef

Rozdzynska-Swiatkowska A, Szklanny K, Marucha J, Tylki-Szymanska A. Modeling Morquio A Syndrome: an anthropometric study of body characteristics and stature. Diagnostics. 2020;10(2):116.CrossRef

Jurecka A, Rozdzynska A, Marucha J, Czartoryska B, Wegrzyn G, Tylki-Szymanska A. Natural history of Polish patients with mucopolysaccharidosis type VI. Central Eur J Med. 2011;6(2):163–71.

Palczewska I, Niedźwiecka Z. Indices of somtic development of Warsaw children and adolescents. Warsaw: Instytut Matki i Dziecka; 2001.

Rozdzynska A, Tylki-Szymanska A, Jurecka A, Cieslik J. Growth pattern and growth prediction of body height in children with mucopolysaccharidosis type II. Acta Paediatr. 2011;100(3):456–60.CrossRef

10.

Patel P, Suzuki Y, Maeda M, Yasuda E, Shimada T, Orii KE, et al. Growth charts for patients with Hunter syndrome. Mol Genet Metab Rep. 2014;1:5–18.CrossRef

11.

Melbouci M, Mason RW, Suzuki Y, Fukao T, Orii T, Tomatsua S. Growth impairment in mucopolysaccharidoses. Mol Genet Metab. 2018;124(1):1–10.CrossRef

12.

Tomatsu S. Impairment of body growth in mucopolysaccharidoses. In: Montaño A, editor. Handbook of growth and growth monitoring in health and disease. New York: Springer; 2012.

13.

Doherty C, Averill LW, Theroux M, Mackenzie WG, Pizarro C, Mason RW, et al. Natural history of Morquio A patient with tracheal obstruction from birth to death. Mol Genet Metab Rep. 2018;14:59–67.CrossRef

14.

Montano AM, Tomatsu S, Brusius A, Smith M, Orii T. Growth charts for patients affected with Morquio A disease. Am J Med Genet A. 2008;146A(10):1286–95.CrossRef

15.

Lin HY, Lee CL, Chiu PC, Niu DM, Tsai FJ, Hwu WL, et al. Relationships among height, weight, body mass index, and age in Taiwanese children with different types of mucopolysaccharidoses. Diagnostics. 2019;9(4):148.CrossRef

16.

Schwartz IVD, Ribeiro MG, Mota JG, Toralles MBP, Correia P, Horovitz D, et al. A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Paediatr. 2007;96:63–70.CrossRef

17.

de Ruijter J, Broere L, Mulder MF, van der Ploeg AT, Rubio-Gozalbo ME, Wortmann SB, et al. Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease). J Inherit Metab Dis. 2014;37(3):447–54.PubMed

18.

Tomatsu S, Orii KO, Vogler C, Nakayama J, Levy B, Grubb JH, et al. Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns−/−) produced by targeted disruption of the gene defective in Morquio A disease. Hum Mol Genet. 2003;12(24):3349–58.CrossRef

19.

Wiesmann UN, Spycher MA, Meier C, Liebaers I, Herschkowitz N. Prenatal mucopolysaccharidosis II (Hunter): a pathogenetic study. Pediatr Res. 1980;14(5):749–56.CrossRef

20.

Beck M, Braun S, Coerdt W, Merz E, Young E, Sewell AC. Fetal presentation of Morquio disease type A. Prenat Diagn. 1992;12(12):1019–29.CrossRef

21.

Smith LJ, Martin JT, Szczesny SE, Ponder KP, Haskins ME, Elliott DM. Altered lumbar spine structure, biochemistry, and biomechanical properties in a canine model of mucopolysaccharidosis type VII. J Orthop Res. 2010;28(5):616–22.CrossRef

22.

Hinek A, Wilson SE. Impaired elastogenesis in Hurler disease—dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly. Am J Pathol. 2000;156(3):925–38.CrossRef

23.

Bishop JR, Schuksz M, Esko JD. Heparan sulphate proteoglycans fine-tune mammalian physiology. Nature. 2007;446(7139):1030–7.CrossRef

24.

Simonaro CM, D’Angelo M, Haskins ME, Schuchman EH. Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models. Pediatr Res. 2005;57(5):701–7.CrossRef

25.

Valayannopoulos V, Nicely H, Harmatz P, et al. Mucopolysaccharidosis VI. Orphanet J Rare Dis. 2010;5:5. https://doi.org/10.1186/1750-1172-5-5.

26.

Swiedler S, Beck M, Bajbouj M, et al. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progressionin a survey of subjects With Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome). Am J Med Genet. 2005;134A:144–150.

27.

Jurecka A, Zakharova E, Cimbalistiene L, Gusina N, Kulpanovich A, Golda A, et al. Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene. Am J Med Genet Part A. 2013;161A(6):1291–9.CrossRef

28.

Auray-Blais C, Lavoie P, Tomatsu S, Valayannopoulos V, Mitchell JJ, Raiman J, et al. UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses. Anal Chim Acta. 2016;936:139–48.CrossRef

29.

Chuang CK, Lin HY, Wang TJ, Tsai CC, Liu HL, Lin SP. A modified liquid chromatography/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses. Orphanet J Rare Dis. 2014;9:1–10.CrossRef

30.

Marucha J, Jurecka A, Syczewska M, Rozdzynska-Swiatkowska A, Tylki-Szymanska A. Restricted joint range of motion in patients with MPS II: correlation with height, age and functional status. Acta Paediatr. 2012;101(4):E183–8.CrossRef

31.

Tanner J. Growth at adolescence; with a general consideration of the effects of hereditary and environmental factors upon growth and maturation from birth to maturity, 2nd ed. Oxford: Blackwell Scientific Publications; 1962.

32.

Cole TJ. Growth references and standards. In: Cameron N, editor. Human growth and development. Academic Press; 2006, p. 383–413.

Title: Comparison of growth dynamics in different types of MPS: an attempt to explain the causes
Authors: Agnieszka Różdżyńska-Świątkowska
Anna Zielińska
Anna Tylki-Szymańska
Publication date: 01-12-2022
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2022
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-022-02486-4

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Comparison of growth dynamics in different types of MPS: an attempt to explain the causes

Abstract

Background

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Results

Conclusions

Please log in to get access to this content

Other articles of this Issue 1/2022

Integrating rare disease management in public health programs in India: exploring the potential of National Health Mission

Health-related quality of life of X-linked hypophosphatemia in Spain

Mortality in patients with alpha-mannosidosis: a review of patients’ data and the literature

Clinical characteristics, healthcare use, and annual costs among patients with dystrophic epidermolysis bullosa

Long-term clinical efficacy of topical treatment with recombinant human nerve growth factor in neurotrophic keratopathy: a novel cure for a rare degenerative corneal disease?

Patients’ and parents’ experiences during wound care of epidermolysis bullosa from a dyadic perspective: a survey study