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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. Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes. The clinical presentation and evolution of NP-C and the...

    Authors: Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, Xavier Ayrignac, Elsa Kaphan, Christine Tranchant, Pascal Cintas, Adrian Degardin, Cyril Goizet, Chloe Laurencin, Lionel Martzolff, Caroline Tilikete, Mathieu Anheim, Bertrand Audoin, Vincent Deramecourt, Thierry Dubard De Gaillarbois…

    Citation: Orphanet Journal of Rare Diseases 2018 13:175

    Content type: Research

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  2. Lumacaftor/ivacaftor was approved by the Food and Drug Administration (FDA) as a combination treatment for Cystic Fibrosis (CF) patients who are homozygous for the F508del mutation. The objective of this study...

    Authors: Dolly Sharma, Shan Xing, Yu-Ting Hung, Rachel N. Caskey, Maria L. Dowell and Daniel R. Touchette

    Citation: Orphanet Journal of Rare Diseases 2018 13:172

    Content type: Research

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  3. Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase. Deficiency in HEXA results in accumulation of ...

    Authors: Mylinh Vu, Rong Li, Amanda Baskfield, Billy Lu, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette Beers, Guokai Chen, Jizhong Zou, Angela J. Espejo-Mojica, Alexander Rodríguez-López, Carlos J. Alméciga-Díaz, Luis A. Barrera, Xuntian Jiang, Daniel S. Ory…

    Citation: Orphanet Journal of Rare Diseases 2018 13:152

    Content type: Research

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  4. This study aimed to obtain UK societal-based utility values for health states related to treatment mode of administration using Gaucher disease as the background condition.

    Authors: Monica Hadi, Paul Swinburn, Luba Nalysnyk, Alaa Hamed and Atul Mehta

    Citation: Orphanet Journal of Rare Diseases 2018 13:159

    Content type: Research

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  5. Cardiac abnormalities have been observed in patients with mucopolysaccharidosis (MPS) of any type, with the most documented abnormalities being valvular heart disease and cardiac hypertrophy. However, few stud...

    Authors: Hsiang-Yu Lin, Ming-Ren Chen, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Chih-Kuang Chuang and Shuan-Pei Lin

    Citation: Orphanet Journal of Rare Diseases 2018 13:148

    Content type: Research

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  6. Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive, neurodegenerative disease associated with a wide variety of progressive neurological manifestations. Miglustat is indicated for the treatment ...

    Authors: Mercè Pineda, Mark Walterfang and Marc C. Patterson

    Citation: Orphanet Journal of Rare Diseases 2018 13:140

    Content type: Review

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  7. Fabry Disease (FD) is an X-linked hereditary lysosomal storage disorder which leads to a multisystemic intralysosomal accumulation of globotriaosylceramid (Gb3). Besides prominent renal and cardiac organ invol...

    Authors: Maria Köping, Wafaa Shehata-Dieler, Dieter Schneider, Mario Cebulla, Daniel Oder, Jonas Müntze, Peter Nordbeck, Christoph Wanner, Rudolf Hagen and Sebastian P. Schraven

    Citation: Orphanet Journal of Rare Diseases 2018 13:137

    Content type: Research

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  8. Krabbe disease is a rare neurodegenerative disorder caused by a deficiency in the lysosomal enzyme galactocerebrosidase. Patients with Krabbe disease present with a variable disease course depending on their a...

    Authors: Nicholas Bascou, Anthony DeRenzo, Michele D. Poe and Maria L. Escolar

    Citation: Orphanet Journal of Rare Diseases 2018 13:126

    Content type: Research

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  9. Fabry disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of different prognosis. From 2001, enzyme replacement...

    Authors: Wladimir Mauhin, Olivier Lidove, Damien Amelin, Foudil Lamari, Catherine Caillaud, Federico Mingozzi, Gaëlle Dzangué-Tchoupou, Louiza Arouche-Delaperche, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Pauline D’Halluin, Esther Noel, Thierry Zenone, Marie Matignon, François Maillot…

    Citation: Orphanet Journal of Rare Diseases 2018 13:127

    Content type: Research

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  10. Acid ceramidase (ACDase) deficiency is a spectrum of disorders that includes a rare lysosomal storage disorder called Farber disease (FD) and a rare epileptic disorder called spinal muscular atrophy with progr...

    Authors: Fabian P. S. Yu, Samuel Amintas, Thierry Levade and Jeffrey A. Medin

    Citation: Orphanet Journal of Rare Diseases 2018 13:121

    Content type: Review

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  11. Mucopolysaccharidosis (MPS) Type I (MPSI) is caused by mutations in the gene encoding the lysosomal enzyme, α-L-iduronidase (IDUA), and a majority of patients present with severe neurodegeneration and cognitiv...

    Authors: Roberto Giugliani, Luciana Giugliani, Fabiano de Oliveira Poswar, Karina Carvalho Donis, Amauri Dalla Corte, Mathias Schmidt, Ruben J. Boado, Igor Nestrasil, Carol Nguyen, Steven Chen and William M. Pardridge

    Citation: Orphanet Journal of Rare Diseases 2018 13:110

    Content type: Research

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  12. Niemann-Pick disease type C (NP-C) is a rare, progressive neurodegenerative disease caused by mutations in the NPC1 or the NPC2 gene. Neurocognitive deficits are common in NP-C, particularly in patients with the ...

    Authors: Andreas Johnen, Matthias Pawlowski and Thomas Duning

    Citation: Orphanet Journal of Rare Diseases 2018 13:91

    Content type: Research

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  13. Mucopolysaccharidosis type II (MPS II) is the most frequently occurring MPS in Taiwan, with an incidence of 2.05 per 100,000 live male births, but little is known about clinical characteristics and surgical hi...

    Authors: Hsiang-Yu Lin, Chih-Kuang Chuang, Ming-Ren Chen, Shio Jean Lin, Pao Chin Chiu, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Yin-Hsiu Chien, Ju-Li Lin and Shuan-Pei Lin

    Citation: Orphanet Journal of Rare Diseases 2018 13:89

    Content type: Research

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  14. α-mannosidosis is a rare, autosomal-recessive, lysosomal storage disease caused by a deficient activity of α-mannosidase. Typical symptoms include intellectual, motor and hearing impairment, facial coarsening,...

    Authors: Juliane Matlach, Thea Zindel, Yasmina Amraoui, Laila Arash-Kaps, Julia B. Hennermann and Susanne Pitz

    Citation: Orphanet Journal of Rare Diseases 2018 13:88

    Content type: Research

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  15. Mucopolysaccharidoses (MPS) are lysosomal storage diseases in which mutations of genes encoding for lysosomal enzymes cause defects in the degradation of glycosaminoglycans (GAGs). The accumulation of GAGs in ...

    Authors: Chih-Kuang Chuang, Hsiang-Yu Lin, Tuan-Jen Wang, You-Hsin Huang, Min-Ju Chan, Hsuan-Chieh Liao, Yun-Ting Lo, Li-Yun Wang, Ru-Yi Tu, Yi-Ya Fang, Tzu-Lin Chen, Hui-Chen Ho, Chuan-Chi Chiang and Shuan-Pei Lin

    Citation: Orphanet Journal of Rare Diseases 2018 13:84

    Content type: Research

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  16. Pompe disease is a rare metabolic myopathy. In adult patients, progressive weakness of limb-girdle and respiratory muscles often leads to wheelchair and respirator dependency. Clinical studies have shown enzym...

    Authors: Jan C. van der Meijden, Michelle E. Kruijshaar, Dimitris Rizopoulos, Pieter A. van Doorn, Nadine A. M. E. van der Beek and Ans T. van der Ploeg

    Citation: Orphanet Journal of Rare Diseases 2018 13:82

    Content type: Research

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  17. Hurler syndrome (MPS IH), the severe, neurodegenerative form of type one mucopolysaccharidosis, is associated with rapid neurocognitive decline during toddlerhood and multi-system dysfunction. It is now standa...

    Authors: Elsa G. Shapiro, Chester B. Whitley and Julie B. Eisengart

    Citation: Orphanet Journal of Rare Diseases 2018 13:76

    Content type: Research

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  18. Fabry disease is frequently characterized by gastrointestinal symptoms, including diarrhea. Migalastat is an orally-administered small molecule approved to treat the symptoms of Fabry disease in patients with ...

    Authors: Raphael Schiffmann, Daniel G. Bichet, Ana Jovanovic, Derralynn A. Hughes, Roberto Giugliani, Ulla Feldt-Rasmussen, Suma P. Shankar, Laura Barisoni, Robert B. Colvin, J. Charles Jennette, Fred Holdbrook, Andrew Mulberg, Jeffrey P. Castelli, Nina Skuban, Jay A. Barth and Kathleen Nicholls

    Citation: Orphanet Journal of Rare Diseases 2018 13:68

    Content type: Research

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  19. Lysosomal α-glucosidase deficiency (Pompe disease) not only leads to glycogen accumulation in skeletal muscle, but also in the cerebral arteries. Dolichoectasia of the basilar artery (BA) has been frequently r...

    Authors: Ole Hensel, Ilka Schneider, Mathias Wieprecht, Torsten Kraya and Stephan Zierz

    Citation: Orphanet Journal of Rare Diseases 2018 13:57

    Content type: Research

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  20. Infantile and late infantile neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases affecting the central nervous system (CNS). The infantile NCL (INCL) is caused by mutations in the PPT1 gene and l...

    Authors: Ni Sima, Rong Li, Wei Huang, Miao Xu, Jeanette Beers, Jizhong Zou, Steven Titus, Elizabeth A. Ottinger, Juan J. Marugan, Xing Xie and Wei Zheng

    Citation: Orphanet Journal of Rare Diseases 2018 13:54

    Content type: Research

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  21. Fabry disease is a multisystemic lysosomal storage disorder caused by the impairment of α-galactosidase A. The incidence of this rare disease is underestimated due to delayed diagnosis. Moreover, the managemen...

    Authors: Irene Vieitez, Olga Souto-Rodriguez, Lorena Fernandez-Mosquera, Beatriz San Millan, Susana Teijeira, Julian Fernandez-Martin, Felisa Martinez-Sanchez, Luis Jose Aldamiz-Echevarria, Monica Lopez-Rodriguez, Carmen Navarro and Saida Ortolano

    Citation: Orphanet Journal of Rare Diseases 2018 13:52

    Content type: Research

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  22. Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysos...

    Authors: Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell…

    Citation: Orphanet Journal of Rare Diseases 2018 13:50

    Content type: Review

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  23. The study aim was to verify the feasibility of a diagnostic algorithm with the evaluation of beta glucocerebrosidase (GBA) activity on dried blood spots (DBS) in screening high-risk Gaucher disease (GD) childr...

    Authors: Ke Lei, Yanxia Zhao, Lirong Sun, Hui Liang, Ronghua Luo, Xiaojing Sun, Yanling Tao, Lijun Chen, Lingling Zhang, Aimin Li, Fu Li and Hongfang Ding

    Citation: Orphanet Journal of Rare Diseases 2018 13:48

    Content type: Research

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  24. Taliglucerase alfa is an enzyme replacement therapy (ERT) approved for treatment of adult and paediatric patients with Type 1 Gaucher disease (GD) in several countries and the first plant cell–expressed recomb...

    Authors: Ari Zimran, Michael Wajnrajch, Betina Hernandez and Gregory M. Pastores

    Citation: Orphanet Journal of Rare Diseases 2018 13:36

    Content type: Review

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  25. Enzyme replacement therapy (ERT) has deeply modified the clinical history of Infantile Onset Pompe Disease (IOPD). However, its long-term effectiveness is still not completely defined. Available data shows a c...

    Authors: Rossella Parini, Paola De Lorenzo, Andrea Dardis, Alberto Burlina, Alessandra Cassio, Paolo Cavarzere, Daniela Concolino, Roberto Della Casa, Federica Deodato, Maria Alice Donati, Agata Fiumara, Serena Gasperini, Francesca Menni, Veronica Pagliardini, Michele Sacchini, Marco Spada…

    Citation: Orphanet Journal of Rare Diseases 2018 13:32

    Content type: Research

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  26. Krabbe disease is a rare neurodegenerative genetic disorder caused by deficiency of galactocerebrosidase. Patients with the infantile form of Krabbe disease can be treated at a presymptomatic stage with human ...

    Authors: Jennifer M. Kwon, Dietrich Matern, Joanne Kurtzberg, Lawrence Wrabetz, Michael H. Gelb, David A. Wenger, Can Ficicioglu, Amy T. Waldman, Barbara K. Burton, Patrick V. Hopkins and Joseph J. Orsini

    Citation: Orphanet Journal of Rare Diseases 2018 13:30

    Content type: Review

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  27. Lysosomal acid lipase deficiency is an autosomal recessive metabolic disease with a wide range of severity from Wolman Disease to Cholesterol Ester Storage Disease. Recently enzyme replacement therapy with seb...

    Authors: Maja Di Rocco, Livia Pisciotta, Annalisa Madeo, Marta Bertamino and Stefano Bertolini

    Citation: Orphanet Journal of Rare Diseases 2018 13:24

    Content type: Research

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  28. Pompe disease is a rare, progressive, metabolic disease, and the first treatable inheritable muscle disorder. Enzyme replacement therapy (ERT) with alglucosidase alfa is disease specific and the only medicinal...

    Authors: Tim A. Kanters, Ans T. van der Ploeg, Michelle E. Kruijshaar, Dimitris Rizopoulos, W. Ken Redekop, Maureen P. M. H. Rutten-van Mӧlken and Leona Hakkaart-van Roijen

    Citation: Orphanet Journal of Rare Diseases 2017 12:179

    Content type: Research

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  29. 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

    Content type: Research

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  30. 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

    Content type: Research

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  31. 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

    Content type: Research

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  32. 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

    Content type: Research

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  33. 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

    Content type: Research

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  34. 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

    Content type: Research

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  35. 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

    Content type: Research

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  36. 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

    Content type: Position statement

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  37. 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

    Content type: Research

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  38. 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

    Content type: Research

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  39. 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

    Content type: Review

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  40. 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

    Content type: Review

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  41. 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

    Content type: Review

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  42. 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

    Content type: Research

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  43. 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

    Content type: Research

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  44. 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

    Content type: Research

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  45. 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

    Content type: Research

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  46. 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

    Content type: Research

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  47. 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

    Content type: Research

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  48. 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

    Content type: Research

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  49. 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

    Content type: Review

    Published on: