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

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...
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Gespeichert in:

Autor*in:	Różdżyńska-Świątkowska, Agnieszka [verfasserIn] Zielińska, Anna Tylki-Szymańska, Anna

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Schlagwörter:	Mucopolysaccharidoses Lysosomal storage disorders Hurler syndrome Sheie syndrome Sanfilippo syndrome Hunter syndrome Maroteaux–Lamy syndrome Growth pattern Growth charts

Anmerkung:	© The Author(s) 2022

Übergeordnetes Werk:	Enthalten in: Orphanet journal of rare diseases - London : BioMed Central, 2006, 17(2022), 1 vom: 05. Sept.
Übergeordnetes Werk:	volume:17 ; year:2022 ; number:1 ; day:05 ; month:09

Links:	Volltext

DOI / URN:	10.1186/s13023-022-02486-4

Katalog-ID:	SPR050968564

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520			\|a 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.
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650		4	\|a Maroteaux–Lamy syndrome \|7 (dpeaa)DE-He213
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allfields	10.1186/s13023-022-02486-4 doi (DE-627)SPR050968564 (SPR)s13023-022-02486-4-e DE-627 ger DE-627 rakwb eng Różdżyńska-Świątkowska, Agnieszka verfasserin (orcid)0000-0001-6936-5989 aut Comparison of growth dynamics in different types of MPS: an attempt to explain the causes 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2022 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. Mucopolysaccharidoses (dpeaa)DE-He213 Lysosomal storage disorders (dpeaa)DE-He213 Hurler syndrome (dpeaa)DE-He213 Sheie syndrome (dpeaa)DE-He213 Sanfilippo syndrome (dpeaa)DE-He213 Hunter syndrome (dpeaa)DE-He213 Maroteaux–Lamy syndrome (dpeaa)DE-He213 Growth pattern (dpeaa)DE-He213 Growth charts (dpeaa)DE-He213 Zielińska, Anna aut Tylki-Szymańska, Anna aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 17(2022), 1 vom: 05. Sept. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:17 year:2022 number:1 day:05 month:09 https://dx.doi.org/10.1186/s13023-022-02486-4 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2022 1 05 09
spelling	10.1186/s13023-022-02486-4 doi (DE-627)SPR050968564 (SPR)s13023-022-02486-4-e DE-627 ger DE-627 rakwb eng Różdżyńska-Świątkowska, Agnieszka verfasserin (orcid)0000-0001-6936-5989 aut Comparison of growth dynamics in different types of MPS: an attempt to explain the causes 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2022 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. Mucopolysaccharidoses (dpeaa)DE-He213 Lysosomal storage disorders (dpeaa)DE-He213 Hurler syndrome (dpeaa)DE-He213 Sheie syndrome (dpeaa)DE-He213 Sanfilippo syndrome (dpeaa)DE-He213 Hunter syndrome (dpeaa)DE-He213 Maroteaux–Lamy syndrome (dpeaa)DE-He213 Growth pattern (dpeaa)DE-He213 Growth charts (dpeaa)DE-He213 Zielińska, Anna aut Tylki-Szymańska, Anna aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 17(2022), 1 vom: 05. Sept. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:17 year:2022 number:1 day:05 month:09 https://dx.doi.org/10.1186/s13023-022-02486-4 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2022 1 05 09
allfields_unstemmed	10.1186/s13023-022-02486-4 doi (DE-627)SPR050968564 (SPR)s13023-022-02486-4-e DE-627 ger DE-627 rakwb eng Różdżyńska-Świątkowska, Agnieszka verfasserin (orcid)0000-0001-6936-5989 aut Comparison of growth dynamics in different types of MPS: an attempt to explain the causes 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2022 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. Mucopolysaccharidoses (dpeaa)DE-He213 Lysosomal storage disorders (dpeaa)DE-He213 Hurler syndrome (dpeaa)DE-He213 Sheie syndrome (dpeaa)DE-He213 Sanfilippo syndrome (dpeaa)DE-He213 Hunter syndrome (dpeaa)DE-He213 Maroteaux–Lamy syndrome (dpeaa)DE-He213 Growth pattern (dpeaa)DE-He213 Growth charts (dpeaa)DE-He213 Zielińska, Anna aut Tylki-Szymańska, Anna aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 17(2022), 1 vom: 05. Sept. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:17 year:2022 number:1 day:05 month:09 https://dx.doi.org/10.1186/s13023-022-02486-4 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2022 1 05 09
allfieldsGer	10.1186/s13023-022-02486-4 doi (DE-627)SPR050968564 (SPR)s13023-022-02486-4-e DE-627 ger DE-627 rakwb eng Różdżyńska-Świątkowska, Agnieszka verfasserin (orcid)0000-0001-6936-5989 aut Comparison of growth dynamics in different types of MPS: an attempt to explain the causes 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2022 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. Mucopolysaccharidoses (dpeaa)DE-He213 Lysosomal storage disorders (dpeaa)DE-He213 Hurler syndrome (dpeaa)DE-He213 Sheie syndrome (dpeaa)DE-He213 Sanfilippo syndrome (dpeaa)DE-He213 Hunter syndrome (dpeaa)DE-He213 Maroteaux–Lamy syndrome (dpeaa)DE-He213 Growth pattern (dpeaa)DE-He213 Growth charts (dpeaa)DE-He213 Zielińska, Anna aut Tylki-Szymańska, Anna aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 17(2022), 1 vom: 05. Sept. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:17 year:2022 number:1 day:05 month:09 https://dx.doi.org/10.1186/s13023-022-02486-4 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2022 1 05 09
allfieldsSound	10.1186/s13023-022-02486-4 doi (DE-627)SPR050968564 (SPR)s13023-022-02486-4-e DE-627 ger DE-627 rakwb eng Różdżyńska-Świątkowska, Agnieszka verfasserin (orcid)0000-0001-6936-5989 aut Comparison of growth dynamics in different types of MPS: an attempt to explain the causes 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2022 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. Mucopolysaccharidoses (dpeaa)DE-He213 Lysosomal storage disorders (dpeaa)DE-He213 Hurler syndrome (dpeaa)DE-He213 Sheie syndrome (dpeaa)DE-He213 Sanfilippo syndrome (dpeaa)DE-He213 Hunter syndrome (dpeaa)DE-He213 Maroteaux–Lamy syndrome (dpeaa)DE-He213 Growth pattern (dpeaa)DE-He213 Growth charts (dpeaa)DE-He213 Zielińska, Anna aut Tylki-Szymańska, Anna aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 17(2022), 1 vom: 05. Sept. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:17 year:2022 number:1 day:05 month:09 https://dx.doi.org/10.1186/s13023-022-02486-4 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2022 1 05 09
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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. 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author	Różdżyńska-Świątkowska, Agnieszka
spellingShingle	Różdżyńska-Świątkowska, Agnieszka misc Mucopolysaccharidoses misc Lysosomal storage disorders misc Hurler syndrome misc Sheie syndrome misc Sanfilippo syndrome misc Hunter syndrome misc Maroteaux–Lamy syndrome misc Growth pattern misc Growth charts Comparison of growth dynamics in different types of MPS: an attempt to explain the causes
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topic_title	Comparison of growth dynamics in different types of MPS: an attempt to explain the causes Mucopolysaccharidoses (dpeaa)DE-He213 Lysosomal storage disorders (dpeaa)DE-He213 Hurler syndrome (dpeaa)DE-He213 Sheie syndrome (dpeaa)DE-He213 Sanfilippo syndrome (dpeaa)DE-He213 Hunter syndrome (dpeaa)DE-He213 Maroteaux–Lamy syndrome (dpeaa)DE-He213 Growth pattern (dpeaa)DE-He213 Growth charts (dpeaa)DE-He213
topic	misc Mucopolysaccharidoses misc Lysosomal storage disorders misc Hurler syndrome misc Sheie syndrome misc Sanfilippo syndrome misc Hunter syndrome misc Maroteaux–Lamy syndrome misc Growth pattern misc Growth charts
topic_unstemmed	misc Mucopolysaccharidoses misc Lysosomal storage disorders misc Hurler syndrome misc Sheie syndrome misc Sanfilippo syndrome misc Hunter syndrome misc Maroteaux–Lamy syndrome misc Growth pattern misc Growth charts
topic_browse	misc Mucopolysaccharidoses misc Lysosomal storage disorders misc Hurler syndrome misc Sheie syndrome misc Sanfilippo syndrome misc Hunter syndrome misc Maroteaux–Lamy syndrome misc Growth pattern misc Growth charts
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title	Comparison of growth dynamics in different types of MPS: an attempt to explain the causes
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title_full	Comparison of growth dynamics in different types of MPS: an attempt to explain the causes
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title_sort	comparison of growth dynamics in different types of mps: an attempt to explain the causes
title_auth	Comparison of growth dynamics in different types of MPS: an attempt to explain the causes
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. © The Author(s) 2022
abstractGer	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. © The Author(s) 2022
abstract_unstemmed	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. © The Author(s) 2022
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title_short	Comparison of growth dynamics in different types of MPS: an attempt to explain the causes
url	https://dx.doi.org/10.1186/s13023-022-02486-4
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author2	Zielińska, Anna Tylki-Szymańska, Anna
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up_date	2024-07-03T18:56:41.204Z
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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.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Mucopolysaccharidoses</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Lysosomal storage disorders</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Hurler syndrome</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Sheie syndrome</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Sanfilippo syndrome</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Hunter syndrome</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Maroteaux–Lamy syndrome</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Growth pattern</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Growth charts</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Zielińska, Anna</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Tylki-Szymańska, Anna</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="t">Orphanet journal of rare diseases</subfield><subfield code="d">London : BioMed Central, 2006</subfield><subfield code="g">17(2022), 1 vom: 05. 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Comparison of growth dynamics in different types of MPS: an attempt to explain the causes

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