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Lysosomal storage diseases

This section aims to allow timely communication on diseases associated with lysosomal dysfunction, including topics on lysosome biogenesis, pathophysiology and putative therapeutic options. Although previously viewed as a terminal compartment for the degradation of macromolecular by-products of cellular turnover, a central role for the lysosome is increasingly acknowledged, including recently identified tasks in nutrient sensing; occurring in a coordinated fashion with autophagic pathways. Insights into pathophysiology are revealing potential shared mechanisms of disease with other more common neurodegenerative conditions seen in an aging population, such as Parkinson's and Alzheimer's disease. Studies in animal models have been invaluable in identifying potential therapeutic options that hopefully will advance the care of affected patients. The blood brain barrier remains a challenge which needs to be addressed, to enable transformative therapies which can gain access to vulnerable neuronal populations for disease subtypes associated with primary CNS involvement. Submissions that relate to the clinical manifestations, underlying biochemical, and molecular changes associated with defined clinical entities, animal model studies, therapeutic outcomes, and novel treatment strategies, will be considered. In addition, studies on societal impact of treatments including cost-effectiveness analyses will be considered.

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  1. Many rare diseases of childhood are life-threatening and chronically debilitating, so living with a rare disease is an on-going challenge for patients and their families. MPS is one of a range of rare inherite...

    Authors: S. Somanadhan and P. J. Larkin

    Citation: Orphanet Journal of Rare Diseases 2016 11:138

    Content type: Research

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  2. The mucopolysaccharidoses (MPS) comprise a heterogeneous family of rare, genetic lysosomal storage disorders that result in severe morbidity and reduced life expectancy. Emerging treatments for several of thes...

    Authors: Christian J. Hendriksz, Kenneth I. Berger, Christina Lampe, Susanne G. Kircher, Paul J. Orchard, Rebecca Southall, Sarah Long, Stephen Sande and Jeffrey I. Gold

    Citation: Orphanet Journal of Rare Diseases 2016 11:119

    Content type: Review

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  3. Pompe disease is a progressive metabolic myopathy. Disease progression is characterized, among other features, by progressive dysfunction of the voice apparatus. The aim of this study was to employ electroglot...

    Authors: Krzysztof Szklanny, Ryszard Gubrynowicz, Katarzyna Iwanicka-Pronicka and Anna Tylki-Szymańska

    Citation: Orphanet Journal of Rare Diseases 2016 11:99

    Content type: Research

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  4. Hematopoietic stem cell transplants, alongside enzyme replacement therapy and good multi-disciplinary care, have dramatically improved the life expectancy in children with Mucopolysaccharidosis (MPS) I, with b...

    Authors: A. Soni-Jaiswal, J. Mercer, S. A. Jones, I. A. Bruce and P. Callery

    Citation: Orphanet Journal of Rare Diseases 2016 11:96

    Content type: Research

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  5. Hematopoietic stem cell transplantation (HSCT) is the treatment of choice for young Hurler patients. Despite halting of neurocognitive decline and improvement of life expectancy, the beneficial effect on the s...

    Authors: Mona Schmidt, Sandra Breyer, Ulrike Löbel, Sinef Yarar, Ralf Stücker, Kurt Ullrich, Ingo Müller and Nicole Muschol

    Citation: Orphanet Journal of Rare Diseases 2016 11:93

    Content type: Research

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  6. The aim of the present study was to assess manifestations of and applied treatment concepts for females with Fabry disease (FD) according to the current European Fabry Guidelines.

    Authors: Malte Lenders, Julia B. Hennermann, Christine Kurschat, Arndt Rolfs, Sima Canaan-Kühl, Claudia Sommer, Nurcan Üçeyler, Christoph Kampmann, Nesrin Karabul, Anne-Katrin Giese, Thomas Duning, Jörg Stypmann, Johannes Krämer, Frank Weidemann, Stefan-Martin Brand, Christoph Wanner…

    Citation: Orphanet Journal of Rare Diseases 2016 11:88

    Content type: Research

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  7. Mucopolysaccharidosis type II (MPS II) is an X-linked recessive, multisystemic lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. MPS II has a variable age of onset and variable rate o...

    Authors: Hsiang-Yu Lin, Chih-Kuang Chuang, Yu-Hsiu Huang, Ru-Yi Tu, Fang-Ju Lin, Shio Jean Lin, Pao Chin Chiu, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Yin-Hsiu Chien, Ju-Li Lin, Yen-Yin Chou, Wen-Hui Tsai, Tung-Ming Chang and Shuan-Pei Lin

    Citation: Orphanet Journal of Rare Diseases 2016 11:85

    Content type: Research

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  8. As little information is available on children with non-classic presentations of Pompe disease, we wished to gain knowledge of specific clinical characteristics and genotypes. We included all patients younger ...

    Authors: C. I. van Capelle, J. C. van der Meijden, J. M. P. van den Hout, J. Jaeken, M. Baethmann, T. Voit, M. A. Kroos, T. G. J. Derks, M. E. Rubio-Gozalbo, M. A. Willemsen, R. H. Lachmann, E. Mengel, H. Michelakakis, J. C. de Jongste, A. J. J. Reuser and A. T. van der Ploeg

    Citation: Orphanet Journal of Rare Diseases 2016 11:65

    Content type: Research

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  9. Fabry disease (FD) is an X-linked multisystemic disorder with a heterogeneous phenotype. Especially atypical or late-onset type 2 phenotypes present a therapeutical dilemma.

    Authors: Malte Lenders, Frank Weidemann, Christine Kurschat, Sima Canaan-Kühl, Thomas Duning, Jörg Stypmann, Boris Schmitz, Stefanie Reiermann, Johannes Krämer, Daniela Blaschke, Christoph Wanner, Stefan-Martin Brand and Eva Brand

    Citation: Orphanet Journal of Rare Diseases 2016 11:54

    Content type: Research

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  10. Gaucher disease (GD) is a rare lysosomal storage disease caused by deficiency in the enzyme beta-glucocerebrosidase. Along with visceral, hematologic, and bone manifestations, patients may experience chronic f...

    Authors: Y. Chen Zion, E. Pappadopulos, M. Wajnrajch and H. Rosenbaum

    Citation: Orphanet Journal of Rare Diseases 2016 11:53

    Content type: Review

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  11. Mucopolysaccharidosis type II (MPSII) patients frequently suffer from dyspnoea caused by restrictive airway disease due to skeletal abnormalities as well as glycosaminoglycans (GAG) accumulation at different l...

    Authors: M. Rutten, P. Ciet, R. van den Biggelaar, E. Oussoren, J. G. Langendonk, A. T. van der Ploeg and M. Langeveld

    Citation: Orphanet Journal of Rare Diseases 2016 11:50

    Content type: Research

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  12. We retrospectively compared biochemical responses in type 1 Gaucher disease patients to treatment with glycosphingolipid synthesis inhibitors miglustat and eliglustat and ERT.

    Authors: Bouwien E. Smid, Maria J. Ferraz, Marri Verhoek, Mina Mirzaian, Patrick Wisse, Herman S. Overkleeft, Carla E. Hollak and Johannes M. Aerts

    Citation: Orphanet Journal of Rare Diseases 2016 11:28

    Content type: Research

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  13. Mucopolysaccharidosis type I (MPS I) is caused by the deficiency of alpha-L-iduronidase (IDUA), which is involved in the degradation of glycosaminoglycans (GAGs), such as heparan sulfate and dermatan sulfate i...

    Authors: Chihwa Kim, Min Jung Kwak, Sung Yoon Cho, Ah-ra Ko, Jinguen Rheey, Jeong-Yi Kwon, Yokyung Chung and Dong-Kyu Jin

    Citation: Orphanet Journal of Rare Diseases 2015 10:121

    Content type: Research

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  14. Fabry-associated pain may be the first symptom of Fabry disease (FD) and presents with a unique phenotype including mostly acral burning triggerable pain attacks, evoked pain, pain crises, and permanent pain. ...

    Authors: Barbara Magg, Christoph Riegler, Silke Wiedmann, Peter Heuschmann, Claudia Sommer and Nurcan Üçeyler

    Citation: Orphanet Journal of Rare Diseases 2015 10:113

    Content type: Research

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  15. EU regulation 726/2004 authorises manufacturers to provide drugs to patients on a temporary basis when marketing authorisation sought centrally for the entire EU is still pending. Individual Member States reta...

    Authors: Hanna I. Hyry, Jeremy Manuel, Timothy M. Cox and Jonathan C. P. Roos

    Citation: Orphanet Journal of Rare Diseases 2015 10:100

    Content type: Research

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  16. This paper summarizes the results of a group effort to bring together the worldwide available data on patients who are either homozygotes or compound heterozygotes for mutations in MAT1A. MAT1A encodes the subuni...

    Authors: Yin-Hsiu Chien, Jose E. Abdenur, Federico Baronio, Allison Anne Bannick, Fernando Corrales, Maria Couce, Markus G. Donner, Can Ficicioglu, Cynthia Freehauf, Deborah Frithiof, Garrett Gotway, Koichi Hirabayashi, Floris Hofstede, George Hoganson, Wuh-Liang Hwu, Philip James…

    Citation: Orphanet Journal of Rare Diseases 2015 10:99

    Content type: Research

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  17. Metachromatic Leukodystrophy (MLD) is a rare, fatal demyelinating disorder with limited treatment options. Published outcomes after hematopoietic stem cell transplantation (HSCT) are scant and mixed. We report...

    Authors: Alexander A. Boucher, Weston Miller, Ryan Shanley, Richard Ziegler, Troy Lund, Gerald Raymond and Paul J. Orchard

    Citation: Orphanet Journal of Rare Diseases 2015 10:94

    Content type: Research

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  18. Tangier disease (TD) is a rare autosomal recessive disorder, resulting from mutations in the ATP binding cassette transporter (ABCA1) gene. The deficiency of ABCA1 protein impairs high density lipoprotein (HDL...

    Authors: Annalisa Sechi, Andrea Dardis, Stefania Zampieri, Claudio Rabacchi, Paolo Zanoni, Sebastiano Calandra, Giovanna De Maglio, Stefano Pizzolitto, Valerio Maruotti, Antonio Di Muzio, Frances Platt and Bruno Bembi

    Citation: Orphanet Journal of Rare Diseases 2014 9:143

    Content type: Research

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