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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. Content type: Research

    Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by a primary deficiency of α-glucosidase and the associated accumulation of glycogen in lysosomal vacuoles. The deficiency of α-glucosid...

    Authors: Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G. Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E. Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G. MacArthur…

    Citation: Orphanet Journal of Rare Diseases 2017 12:173

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  2. Content type: Research

    Sanfilippo syndrome (mucopolysaccharidosis type III; MPS III) is an inherited monogenic lysosomal storage disorder divided into subtypes A, B, C and D. Each subtype is characterized by deficiency of a differen...

    Authors: Christine Lavery, Chris J. Hendriksz and Simon A. Jones

    Citation: Orphanet Journal of Rare Diseases 2017 12:168

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  3. Content type: Research

    Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare, X-linked disorder caused by deficient activity of the enzyme iduronate-2-sulfatase (I2S). Treatment is...

    Authors: Joseph Muenzer, Roberto Giugliani, Maurizio Scarpa, Anna Tylki-Szymańska, Virginie Jego and Michael Beck

    Citation: Orphanet Journal of Rare Diseases 2017 12:161

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  4. Content type: Research

    Pain is one of the most disabling symptoms of Gaucher disease. It is referred by the majority of Gaucher patients and often persists despite long-term enzyme replacement treatment. It has been mainly considere...

    Authors: Grazia Devigili, Michele De Filippo, Giovanni Ciana, Andrea Dardis, Christian Lettieri, Sara Rinaldo, Daniela Macor, Alessandro Moro, Roberto Eleopra and Bruno Bembi

    Citation: Orphanet Journal of Rare Diseases 2017 12:148

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  5. Content type: Research

    Niemann-Pick disease Type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. The pathological mechanisms, underlying NPC1 are not yet completely understood. Especiall...

    Authors: Franziska Peter, Sebastian Rost, Arndt Rolfs and Moritz J. Frech

    Citation: Orphanet Journal of Rare Diseases 2017 12:145

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  6. Content type: Research

    Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure. Current enzyme re...

    Authors: Barry J. Byrne, Tarekegn Geberhiwot, Bruce A. Barshop, Richard Barohn, Derralynn Hughes, Drago Bratkovic, Claude Desnuelle, Pascal Laforet, Eugen Mengel, Mark Roberts, Peter Haroldsen, Kristin Reilley, Kala Jayaram, Ke Yang and Liron Walsh

    Citation: Orphanet Journal of Rare Diseases 2017 12:144

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  7. Content type: Research

    Wolman disease (WD) is a rare lysosomal storage disorder that is caused by mutations in the LIPA gene encoding lysosomal acid lipase (LAL). Deficiency in LAL function causes accumulation of cholesteryl esters and...

    Authors: Francis Aguisanda, Charles D. Yeh, Catherine Z. Chen, Rong Li, Jeanette Beers, Jizhong Zou, Natasha Thorne and Wei Zheng

    Citation: Orphanet Journal of Rare Diseases 2017 12:120

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  8. Content type: Position statement

    Mucopolysaccharidosis type III is a progressive, neurodegenerative lysosomal storage disorder for which there is currently no effective therapy. Though numerous potential therapies are in development, there ar...

    Authors: Arunabha Ghosh, Elsa Shapiro, Stewart Rust, Kathleen Delaney, Samantha Parker, Adam J Shaywitz, Adelaida Morte, Gillian Bubb, Maureen Cleary, Tien Bo, Christine Lavery, Brian W Bigger and Simon A Jones

    Citation: Orphanet Journal of Rare Diseases 2017 12:117

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  9. Content type: Research

    Mucopolysaccharidosis type I (MPS I) is a debilitating hereditary disease characterized by alpha-L-iduronidase (IDUA) deficiency and consequent inability to degrade glycosaminoglycans. The pathological accumul...

    Authors: Yu-Hone Hsu, Ren-Shyan Liu, Win-Li Lin, Yeong-Seng Yuh, Shuan-Pei Lin and Tai-Tong Wong

    Citation: Orphanet Journal of Rare Diseases 2017 12:109

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  10. Content type: Research

    This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period. Patients ≥18...

    Authors: D. Hughes, R. Giugliani, N. Guffon, S. A. Jones, K. E. Mengel, R. Parini, R. Matousek, S. M. Hawley and A. Quartel

    Citation: Orphanet Journal of Rare Diseases 2017 12:98

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  11. Content type: Review

    Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare lysosomal storage disease with progressive multisystem manifestations caused by deficient activity of the enzyme iduronate-2-sulfa...

    Authors: Joseph Muenzer, Simon A. Jones, Anna Tylki-Szymańska, Paul Harmatz, Nancy J. Mendelsohn, Nathalie Guffon, Roberto Giugliani, Barbara K. Burton, Maurizio Scarpa, Michael Beck, Yvonne Jangelind, Elizabeth Hernberg-Stahl, Maria Paabøl Larsen, Tom Pulles and David A. H. Whiteman

    Citation: Orphanet Journal of Rare Diseases 2017 12:82

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  12. Content type: Review

    Morquio A syndrome is an ultra-rare, inherited lysosomal storage disorder associated with progressive, multi-systemic clinical impairments, causing gradual loss of functional capacity and endurance, impaired q...

    Authors: Rudolf Schrover, Kathryn Evans, Roberto Giugliani, Ian Noble and Kaustuv Bhattacharya

    Citation: Orphanet Journal of Rare Diseases 2017 12:78

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  13. Content type: Review

    Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick di...

    Authors: Margaret M. McGovern, Ruzan Avetisyan, Bernd-Jan Sanson and Olivier Lidove

    Citation: Orphanet Journal of Rare Diseases 2017 12:41

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  14. Content type: Research

    The Disease Severity Scoring System (DS3) is a validated measure for evaluating Gaucher disease type 1 (GD1) severity. We developed a new framework, consisting of health states, transition probabilities betwee...

    Authors: Michael L. Ganz, Sean Stern, Alex Ward, Luba Nalysnyk, Martin Selzer, Alaa Hamed and Neal Weinreb

    Citation: Orphanet Journal of Rare Diseases 2017 12:38

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  15. Content type: Research

    Newborn screening for mucopolysaccharidosis type I (MPS I) shows promise to improve outcomes by facilitating early diagnosis and treatment. However, diagnostic tests for MPS I are of limited value in predictin...

    Authors: Bridget T. Kiely, Jennifer L. Kohler, Hannah Y. Coletti, Michele D. Poe and Maria L. Escolar

    Citation: Orphanet Journal of Rare Diseases 2017 12:32

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  16. Content type: Research

    Sialic acid storage diseases are neurodegenerative disorders characterized by accumulation of sialic acid in the lysosome. These disorders are caused by mutations in SLC17A5, the gene encoding sialin, a sialic ac...

    Authors: Maja Tarailo-Graovac, Britt I. Drögemöller, Wyeth W. Wasserman, Colin J. D. Ross, Ans M. W. van den Ouweland, Niklas Darin, Gittan Kollberg, Clara D. M. van Karnebeek and Maria Blomqvist

    Citation: Orphanet Journal of Rare Diseases 2017 12:28

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  17. Content type: Research

    Infants presenting with lysosomal acid lipase deficiency have marked failure to thrive, diarrhea, massive hepatosplenomegaly, anemia, rapidly progressive liver disease, and death typically in the first 6 month...

    Authors: Simon A. Jones, Sandra Rojas-Caro, Anthony G. Quinn, Mark Friedman, Sachin Marulkar, Fatih Ezgu, Osama Zaki, J. Jay Gargus, Joanne Hughes, Dominique Plantaz, Roshni Vara, Stephen Eckert, Jean-Baptiste Arnoux, Anais Brassier, Kim-Hanh Le Quan Sang and Vassili Valayannopoulos

    Citation: Orphanet Journal of Rare Diseases 2017 12:25

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  18. Content type: Research

    Gaucher disease (GD) is caused by mutations in the GBA1 gene which encodes lysosomal β-glucocerebrosidase (GCase). In GD, partial or complete loss of GCase activity causes the accumulation of the glycolipids g...

    Authors: Mario de la Mata, David Cotán, Manuel Oropesa-Ávila, Marina Villanueva-Paz, Isabel de Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, Juan M. Suárez-Rivero, Gustavo Tiscornia and José A. Sánchez-Alcázar

    Citation: Orphanet Journal of Rare Diseases 2017 12:23

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  19. Content type: Research

    Lucerastat, an inhibitor of glucosylceramide synthase, has the potential to restore the balance between synthesis and degradation of glycosphingolipids in glycolipid storage disorders such as Gaucher disease a...

    Authors: N. Guérard, O. Morand and J. Dingemanse

    Citation: Orphanet Journal of Rare Diseases 2017 12:9

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  20. Content type: Research

    Mucopolysaccharidosis type II, an X-linked recessive disorder is the most common lysosomal storage disease detected among Filipinos. This is a case series involving 23 male Filipino patients confirmed to have ...

    Authors: Mary Anne D. Chiong, Daffodil M. Canson, Mary Ann R. Abacan, Melissa Mae P. Baluyot, Cynthia P. Cordero and Catherine Lynn T. Silao

    Citation: Orphanet Journal of Rare Diseases 2017 12:7

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  21. Content type: Review

    Aspartylglucosaminuria (AGU), a recessively inherited lysosomal storage disease, is the most common disorder of glycoprotein degradation with a high prevalence in the Finnish population. It is a lifelong condi...

    Authors: Maria Arvio and Ilkka Mononen

    Citation: Orphanet Journal of Rare Diseases 2016 11:162

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  22. Content type: Letter to the Editor

    Rare disease represents one of the most significant issues facing the medical community and health care providers worldwide, yet the majority of these disorders never emerge from their obscurity, drawing littl...

    Authors: Steven U. Walkley, Cristin D. Davidson, Jonathan Jacoby, Philip D. Marella, Elizabeth A. Ottinger, Christopher P. Austin, Forbes D. Porter, Charles H. Vite and Daniel S. Ory

    Citation: Orphanet Journal of Rare Diseases 2016 11:161

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  23. Content type: Research

    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

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  24. Content type: Review

    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

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  25. Content type: Research

    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

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  26. Content type: Research

    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

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  27. Content type: Research

    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

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  28. Content type: Research

    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

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  29. Content type: Research

    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

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  30. Content type: Research

    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

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  31. Content type: Research

    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

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  32. Content type: Review

    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

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  33. Content type: Research

    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

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  34. Content type: Research

    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

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  35. Content type: Research

    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

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  36. Content type: Research

    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

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  37. Content type: Research

    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

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  38. Content type: Research

    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

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  39. Content type: Research

    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

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  40. Content type: Research

    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

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