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Mucolipidosis type III, a series of adult patients

BACKGROUND: Mucolipidosis type III α/β or γ (MLIII) are rare autosomal recessive diseases, in which reduced activity of the enzyme UDP-N-acetyl glucosamine-1-phosphotransferase (GlcNAc-PTase) leads to intra-lysosomal accumulation of different substrates. Publications on the natural history of MLIII,...

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Autores principales: Oussoren, Esmee, van Eerd, David, Murphy, Elaine, Lachmann, Robin, van der Meijden, Jan C., Hoefsloot, Lies H., Verdijk, Rob, Ruijter, George J. G., Maas, Mario, Hollak, Carla E. M., Langendonk, Janneke G., van der Ploeg, Ans T., Langeveld, Mirjam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133174/
https://www.ncbi.nlm.nih.gov/pubmed/29704188
http://dx.doi.org/10.1007/s10545-018-0186-z
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author Oussoren, Esmee
van Eerd, David
Murphy, Elaine
Lachmann, Robin
van der Meijden, Jan C.
Hoefsloot, Lies H.
Verdijk, Rob
Ruijter, George J. G.
Maas, Mario
Hollak, Carla E. M.
Langendonk, Janneke G.
van der Ploeg, Ans T.
Langeveld, Mirjam
author_facet Oussoren, Esmee
van Eerd, David
Murphy, Elaine
Lachmann, Robin
van der Meijden, Jan C.
Hoefsloot, Lies H.
Verdijk, Rob
Ruijter, George J. G.
Maas, Mario
Hollak, Carla E. M.
Langendonk, Janneke G.
van der Ploeg, Ans T.
Langeveld, Mirjam
author_sort Oussoren, Esmee
collection PubMed
description BACKGROUND: Mucolipidosis type III α/β or γ (MLIII) are rare autosomal recessive diseases, in which reduced activity of the enzyme UDP-N-acetyl glucosamine-1-phosphotransferase (GlcNAc-PTase) leads to intra-lysosomal accumulation of different substrates. Publications on the natural history of MLIII, especially the milder forms, are scarce. This study provides a detailed description of the disease characteristics and its natural course in adult patients with MLIII. METHODS: In this retrospective chart study, the clinical, biochemical and molecular findings in adult patients with a confirmed diagnosis of MLIII from three treatment centres were collected. RESULTS: Thirteen patients with MLIII were included in this study. Four patients (31%) were initially misdiagnosed with a type of mucopolysaccharidosis (MPS). Four patients (31%) had mild cognitive impairment. Six patients (46%) needed help with activities of daily living (ADL) or were wheelchair-dependent. All patients had dysostosis multiplex and progressive secondary osteoarthritis, characterised by cartilage destruction and bone lesions in multiple joints. All patients underwent multiple orthopaedic surgical interventions as early as the second or third decades of life, of which total hip replacement (THR) was the most common procedure (61% of patients). Carpal tunnel syndrome (CTS) was found in 12 patients (92%) and in eight patients (61%), CTS release was performed. CONCLUSIONS: Severe skeletal abnormalities, resulting from abnormal bone development and severe progressive osteoarthritis, are the hallmark of MLIII, necessitating surgical orthopaedic interventions early in life. Future therapies for this disease should focus on improving cartilage and bone quality, preventing skeletal complications and improving mobility. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s10545-018-0186-z) contains supplementary material, which is available to authorized users.
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spelling pubmed-61331742018-09-14 Mucolipidosis type III, a series of adult patients Oussoren, Esmee van Eerd, David Murphy, Elaine Lachmann, Robin van der Meijden, Jan C. Hoefsloot, Lies H. Verdijk, Rob Ruijter, George J. G. Maas, Mario Hollak, Carla E. M. Langendonk, Janneke G. van der Ploeg, Ans T. Langeveld, Mirjam J Inherit Metab Dis Original Article BACKGROUND: Mucolipidosis type III α/β or γ (MLIII) are rare autosomal recessive diseases, in which reduced activity of the enzyme UDP-N-acetyl glucosamine-1-phosphotransferase (GlcNAc-PTase) leads to intra-lysosomal accumulation of different substrates. Publications on the natural history of MLIII, especially the milder forms, are scarce. This study provides a detailed description of the disease characteristics and its natural course in adult patients with MLIII. METHODS: In this retrospective chart study, the clinical, biochemical and molecular findings in adult patients with a confirmed diagnosis of MLIII from three treatment centres were collected. RESULTS: Thirteen patients with MLIII were included in this study. Four patients (31%) were initially misdiagnosed with a type of mucopolysaccharidosis (MPS). Four patients (31%) had mild cognitive impairment. Six patients (46%) needed help with activities of daily living (ADL) or were wheelchair-dependent. All patients had dysostosis multiplex and progressive secondary osteoarthritis, characterised by cartilage destruction and bone lesions in multiple joints. All patients underwent multiple orthopaedic surgical interventions as early as the second or third decades of life, of which total hip replacement (THR) was the most common procedure (61% of patients). Carpal tunnel syndrome (CTS) was found in 12 patients (92%) and in eight patients (61%), CTS release was performed. CONCLUSIONS: Severe skeletal abnormalities, resulting from abnormal bone development and severe progressive osteoarthritis, are the hallmark of MLIII, necessitating surgical orthopaedic interventions early in life. Future therapies for this disease should focus on improving cartilage and bone quality, preventing skeletal complications and improving mobility. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s10545-018-0186-z) contains supplementary material, which is available to authorized users. Springer Netherlands 2018-04-27 2018 /pmc/articles/PMC6133174/ /pubmed/29704188 http://dx.doi.org/10.1007/s10545-018-0186-z Text en © The Author(s) 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Original Article
Oussoren, Esmee
van Eerd, David
Murphy, Elaine
Lachmann, Robin
van der Meijden, Jan C.
Hoefsloot, Lies H.
Verdijk, Rob
Ruijter, George J. G.
Maas, Mario
Hollak, Carla E. M.
Langendonk, Janneke G.
van der Ploeg, Ans T.
Langeveld, Mirjam
Mucolipidosis type III, a series of adult patients
title Mucolipidosis type III, a series of adult patients
title_full Mucolipidosis type III, a series of adult patients
title_fullStr Mucolipidosis type III, a series of adult patients
title_full_unstemmed Mucolipidosis type III, a series of adult patients
title_short Mucolipidosis type III, a series of adult patients
title_sort mucolipidosis type iii, a series of adult patients
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133174/
https://www.ncbi.nlm.nih.gov/pubmed/29704188
http://dx.doi.org/10.1007/s10545-018-0186-z
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