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Lysosomal Storage Diseases (Lysosomal Storage Disease)

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Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.

Also Known As:

Lysosomal Storage Disease; Disease, Lysosomal Storage; Diseases, Lysosomal Storage; Disorder, Lysosomal Enzyme; Disorders, Lysosomal Enzyme; Enzyme Disorder, Lysosomal; Enzyme Disorders, Lysosomal; Lysosomal Enzyme Disorder; Lysosomal Enzyme Disorders

Networked: 1138 relevant articles (27 outcomes, 40 trials/studies)

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Disease Context: Research Results

Related Diseases

1.	Mucopolysaccharidosis I (Hurler Syndrome)
2.	Mucopolysaccharidoses
3.	alpha-Mannosidosis
4.	Gaucher Disease (Gaucher's Disease)
5.	Fabry Disease (Fabry's Disease)

Experts

1.	Sands, Mark S: 17 articles (04/2015 - 12/2002)
2.	Gieselmann, Volkmar: 16 articles (09/2015 - 12/2002)
3.	Sly, William S: 13 articles (02/2015 - 03/2003)
4.	Grabowski, Gregory A: 13 articles (08/2014 - 01/2003)
5.	Vogler, Carole: 13 articles (10/2012 - 03/2003)
6.	Matzner, Ulrich: 12 articles (09/2015 - 12/2002)
7.	Desnick, Robert J: 11 articles (03/2015 - 05/2002)
8.	Giugliani, Roberto: 11 articles (01/2014 - 04/2004)
9.	Grubb, Jeffrey H: 11 articles (03/2013 - 05/2003)
10.	Platt, Frances M: 9 articles (01/2016 - 05/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Lysosomal Storage Diseases:

1.	Lysergic Acid Diethylamide (LSD)IBA 08/09/2006 - "To ensure long-term stability and genetic homogeneity of this lysosomal storage disease (LSD) model, the aim of this study was to develop and characterize a C57BL/6 congenic strain. " 12/01/2015 - "Gene expression, protein-protein interaction, and nystagmus-associated lysosomal storage disease (LSD) genes were analyzed. " 09/01/2015 - "A considerable number of lysosomal storage diseases (LSD), which can occur at any age in life, should be included in the differential diagnosis of histiocytic diseases. " 06/15/2015 - "Lysosomal storage diseases (LSD) are a group of genetic conditions which could present a vast spectrum of abnormalities that may include skeletal abnormalities, organ dysfunction, neuronal involvement, and tissue accumulation of complex molecules, among other manifestations. " 09/01/2014 - "As such, MPSVII is one of a larger class of inherited diseases referred to as lysosomal storage diseases (LSD). "
2.	Iduronidase (alpha-L-Iduronidase)IBA 01/01/2012 - "Production of α-L-iduronidase in maize for the potential treatment of a human lysosomal storage disease." 01/01/2012 - "MPS I-H is a lysosomal storage disease caused by severe α-L-iduronidase deficiency and subsequent lysosomal glycosaminoglycan (GAG) accumulation. " 09/01/2004 - "To assess the efficacy and safety in treating lysosomal storage disease, four weekly doses of approximately 1 mg of IT rhIDU were administered to MPS I-affected dogs resulting in a mean 23- and 300-fold normal levels of iduronidase in total brain and meninges, respectively. " 09/01/1995 - "Mucopolysaccharidose type I is a lysosomal storage disease caused by a deficiency in the enzyme alpha-L-iduronidase (IDUA). " 08/01/2008 - "Therefore, immune tolerance to iduronidase improved the efficacy of enzyme replacement therapy with recombinant iduronidase in canine MPS I and could potentially improve outcomes in patients with MPS I and other lysosomal storage diseases."
3.	EnzymesIBA 08/01/2015 - "Glyco-engineering strategies for the development of therapeutic enzymes with improved efficacy for the treatment of lysosomal storage diseases." 01/01/2016 - "Among these disorders are lysosomal storage diseases resulting from deficiencies in soluble lysosomal enzymes. " 05/04/2015 - "In the case of lysosomal storage diseases (LSDs), characterized by lysosomal accumulation of undegraded substances, common clinical interventions rely on endocytosis of recombinant enzymes. " 04/27/2015 - "Deficiencies in these enzymes can cause human lysosomal storage diseases. " 01/01/2015 - "The impermeability of the adult blood-brain barrier (BBB) to lysosomal enzymes impedes the ability to treat the central nervous system manifestations of lysosomal storage diseases. "
4.	Proteins (Proteins, Gene)IBA 08/01/2011 - "Lysosomal storage diseases (LSDs) are a class of metabolic disorders caused by mutations in proteins critical for lysosomal function. " 01/01/2011 - "Small molecules have been identified as potential therapeutic agents for lysosomal storage diseases (LSDs), inherited metabolic disorders caused by defects in proteins that result in lysosome dysfunctional. " 01/01/2011 - "Delivery of resident and cargo proteins to the lysosome is vital for proper cellular operations, and failure to correctly target proteins to the organelle is correlated with the development of neurodegenerative and lysosomal storage diseases. " 07/01/2008 - "Lysosomal storage diseases (LSDs) are a class of genetic disorders in which proteins responsible for digestion or absorption of endocytosed material do not function or do not localize properly. " 05/01/1987 - "lysosomal storage diseases, provided problems in the metabolism and targeting of large proteins can be overcome. "
5.	Glucosylceramidase (Glucocerebrosidase)IBA 08/01/2015 - "Gaucher disease (GD) is the most common lysosomal storage disease resulting from mutations in the lysosomal enzyme glucocerebrosidase (GCase). " 04/01/2015 - "Homozygous mutations in the glucocerebrosidase (GBA) gene result in Gaucher disease (GD), the most common lysosomal storage disease. " 02/01/2015 - "Gaucher disease, the most common lysosomal storage disease, is caused by a recessively inherited deficiency in glucocerebrosidase and subsequent accumulation of toxic lipid substrates. " 01/28/2015 - "Deficiency of the lysosomal glycoside hydrolase glucocerebrosidase (GCase) leads to abnormal accumulation of glucosyl ceramide in lysosomes and the development of the lysosomal storage disease known as Gaucher's disease. " 02/01/2014 - "Gaucher's disease (GD), an inherited metabolic disorder caused by mutations in the glucocerebrosidase gene (GBA), is the most common lysosomal storage disease. "
6.	OligosaccharidesIBA 08/01/1990 - "We devised an improved technique of thin layer chromatography, which permitted the high resolution of urinary neutral oligosaccharides and the qualitative determination of blood group related oligosaccharides as well as oligosaccharides pathologically secreted in lysosomal storage diseases. " 05/01/2015 - "[DIFFERENTIATION OF NORM AND PATHOLOGY DURING SELECTIVE BIOCHEMICAL SKREENING OF LYSOSOMAL STORAGE DISEASES WITH INCREASED EXCRETION OF OLIGOSACCHARIDES]." 08/01/1990 - "Thin-layer chromatography of urinary neutral oligosaccharides: the detection of blood group-related oligosaccharides and screening for lysosomal storage disease." 03/01/1982 - "Compounds 2a, 2b, and 5 are novel members of the series of oligosaccharides isolated from the urine of patients with inherited lysosomal storage diseases." 01/01/2011 - "α-Mannosidosis is a rare lysosomal storage disease with accumulation of undegraded mannosyl-linked oligosaccharides in cells throughout the body, most notably in the CNS. "
7.	HydrolasesIBA 06/01/2015 - "Lysosomal storage diseases (LSDs) are mainly caused by the defective activity of lysosomal hydrolases. " 01/01/2013 - "The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders caused by the deficiency of any of the lysosomal functions, in most cases of lysosomal hydrolases. " 07/01/2012 - "Most lysosomal storage diseases are caused by defects in genes encoding for acidic hydrolases. " 12/01/2010 - "Gene defects that affect one or more of these hydrolases lead to LSDs (lysosomal storage diseases). " 07/01/2010 - "Specific genetic defects in lysosomal hydrolases disrupt normal GSL and ganglioside metabolism leading to their excess accumulation in cellular compartments, particularly in the lysosome, i.e., lysosomal storage diseases (LSDs). "
8.	GlucosidasesIBA 10/01/2013 - "The concept of lysosomal storage diseases (LSDs)--disorders characterized by aberrant, excessive storage of cellular material in lysosomes--developed following the discovery of α-glucosidase deficiency as the cause of Pompe disease in 1963. " 02/01/2013 - "Pompe Disease (PD) is a lysosomal storage disease caused by acid α-glucosidase deficiency. " 04/01/2011 - "Gaucher disease, a prevalent lysosomal storage disease, is caused by insufficient activity of acid β-glucosidase (GCase) and resultant glucosylceramide accumulation. " 10/01/2010 - "Pompe disease is a lysosomal storage disease due to deficient acid α-glucosidase (GAA) activity. " 01/01/2009 - "Pompe disease is a rare autosomal recessive lysosomal storage disease caused by deficiency of acid-a-glucosidase (GAA). "
9.	Glycoproteins (Glycoprotein)IBA 09/01/1990 - "Use of this improved thin layer chromatographic method should enhance routine screening of patients for lysosomal storage diseases as well as permit the identification of new disorders resulting from defective oligosaccharide and/or glycoprotein metabolism." 01/01/2007 - "cordata causes an acquired glycoprotein lysosomal storage disease. " 12/02/2014 - "Aspartylglucosaminuria (AGU) is a lysosomal storage disease caused by a metabolic disorder of lysosomes to digest Asn-linked glycoproteins. " 10/08/1999 - "Aspartylglucosaminuria (AGU, McKusick 208400) is an autosomal recessive lysosomal storage disease caused by defective degradation of Asn-linked glycoproteins. " 11/01/1985 - "Mannosidosis is a lysosomal storage disease that results from a defect in glycoprotein metabolism and affects man, Angus and Angus-related breeds of cattle, such as Murray greys, and the cat. "
10.	Retinaldehyde (Retinal)IBA 02/01/2006 - "These mice have an inherited lysosomal storage disease characterized by retinal and CNS degeneration. " 07/18/1983 - "The drug-induced lysosomal abnormalities include diminished vesicle fusion, diminished exocytosis, and reversible "lysosomal storage disease." It is likely that the retinal toxicity of these drugs is one manifestation of the altered lysosomal physiology involving the retinal pigmented epithelium. " 01/01/1982 - "Tortuosities of retinal and conjunctival vessels in lysosomal storage diseases." 11/01/2000 - "Retinal function is improved in a murine model of a lysosomal storage disease following bone marrow transplantation." 10/01/2011 - "Such approach could be particularly interesting to treat lysosomal storage diseases or neurodegenerative disorders characterized by multiple organs injuries especially neuronal and retinal dysfunctions. "

Therapies and Procedures

1.	Enzyme Replacement Therapy 02/01/2013 - "Enzyme replacement therapy has been a very effective treatment for several lysosomal storage diseases. " 01/01/2013 - "Enzyme replacement therapy and hematopoietic stem cell therapy have been proven effective in certain lysosomal storage diseases, and current investigations are underway to evaluate the effectiveness of these therapies and others for the treatment of Morquio A syndrome. " 11/16/2001 - "Enzyme replacement therapy (ERT) has been shown to be effective at reducing the accumulation of undegraded substrates in lysosomal storage diseases. " 09/01/2015 - "Enzyme Replacement Therapies and Immunogenicity in Lysosomal Storage Diseases: Is There a Pattern?" 02/01/2015 - "Antibody formation can interfere with effects of enzyme replacement therapy (ERT) in lysosomal storage diseases. "
2.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 06/10/2001 - "One factor that influences the efficacy of bone marrow transplantation therapy in lysosomal storage diseases is the secretion level of the therapeutic enzyme from donor-type cells. " 09/15/1999 - "Bone marrow transplantation (BMT) is relatively effective for the treatment of lysosomal storage diseases. " 09/01/1993 - "Moreover, recent studies suggest that both mechanisms are important in the therapy of lysosomal storage diseases by bone marrow transplantation. " 10/01/2006 - "Given the plasticity of MSCs, these cells represent an interesting add-on option for cellular therapy in children undergoing bone marrow transplantation for lysosomal storage diseases and other neurometabolic diseases." 05/01/2006 - "Attenuation of murine lysosomal storage disease by allogeneic neonatal bone marrow transplantation using costimulatory blockade and donor lymphocyte infusion without myeloablation."
3.	Tissue Therapy (Cell Therapy) 01/01/2004 - "These data suggest that brain-directed gene/cell therapy may be useful in the treatment of neurological alterations in lysosomal storage diseases." 02/01/2002 - "Novel treatment for neuronopathic lysosomal storage diseases--cell therapy/gene therapy." 01/01/2004 - "We investigated the usefulness of brain-directed gene therapy and cell therapy using mouse models of lysosomal storage diseases. " 05/01/2000 - "We also discuss the possible treatment of the CNS involvement in lysosomal storage diseases by gene therapy/cell therapy." 05/01/2000 - "Gene therapy/cell therapy for lysosomal storage disease."
4.	Investigational Therapies (Experimental Therapy) 02/01/2008 - "These studies may be helpful in assessing the efficacy of experimental therapies for central nervous system disease associated with lysosomal storage diseases." 03/01/2001 - "The gus(mps2J)/gus(mps2J) model provides another well-defined genetic system for the study of the pathophysiology of mucopolysaccharidosis and for evaluation of experimental therapies for lysosomal storage diseases. "
5.	Enzyme Therapy 08/01/2008 - "These studies demonstrate the feasibility of using plant-expressed, recombinant hLAL for the enzyme therapy of human WD/CESD with general implications for other lysosomal storage diseases." 02/01/2007 - "A major challenge in treating lysosomal storage diseases with enzyme therapy is correcting symptoms in the central nervous system (CNS). " 11/01/2006 - "Enzyme therapies for lysosomal storage diseases have developed over the past decade into the standard-of-care for affected patients. " 01/01/2003 - "Over the past three decades, enzyme therapy for lysosomal storage diseases has moved from an academic pursuit to direct delivery of effective clinical care for affected patients and families. " 01/01/2003 - "Enzyme therapy for lysosomal storage disease: principles, practice, and prospects."