A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. (1/29)

A fatal infantile storage disorder with hepatosplenomegaly and severe neurological disease is described. Sphingolipids, including monohexosylceramides (mainly glucosylceramide), dihexosylceramides (mainly lactosylceramide), globotriaosyl ceramide, sulphatides, ceramides and globotetraosyl ceramide, were stored in the tissues. In general, cholesterol and sphingomyelin levels were unaltered. The storage process was generalized and affected a number of cell types, with histiocytes, which infiltrated a number of visceral organs and the brain, especially involved. The ultrastructure of the storage lysosomes was membranous with oligolamellar, mainly vesicular, profiles. Infrequently, there were Gaucher-like lysosomes in histiocytes. The neuropathology was severe and featured neuronal storage and loss with a massive depopulation of cortical neurons and pronounced fibrillary astrocytosis. There was a paucity of myelin and stainable axons in the white matter with signs of active demyelination. Immunohistochemical investigations indicated that saposins A, B, C and D were all deficient. The patient was homozygous for a 1 bp deletion (c.803delG) within the SAP-B domain of the prosaposin gene which leads to a frameshift and premature stop codon. In the heterozygous parents, mutant cDNA was detected by amplification refractory mutation analysis in the nuclear, but not the cytoplasmic, fraction of fibroblast RNA, indicating that the mutant mRNA was rapidly degraded. The storage process in the proband resembled that of a published case from an unrelated family. Saposins were also deficient in this case, leading to its reclassification as prosaposin deficiency, and her mother was found to be a carrier for the same c.803delG mutation. Both of the investigated families came from the same district of eastern Slovakia.  (+info)

A major step on the road to understanding a unique posttranslational modification and its role in a genetic disease. (2/29)

The posttranslational conversion of cysteine to C(alpha)-formylglycine in the catalytic site of mammalian sulfatases is deficient in the rare but devastating disorder multiple sulfatase deficiency (MSD). Two papers in this issue of Cell report the cloning of a gene responsible for this activity.  (+info)

Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. (3/29)

C(alpha)-formylglycine (FGly) is the catalytic residue in the active site of eukaryotic sulfatases. It is posttranslationally generated from a cysteine in the endoplasmic reticulum. The genetic defect of FGly formation causes multiple sulfatase deficiency (MSD), a lysosomal storage disorder. We purified the FGly generating enzyme (FGE) and identified its gene and nine mutations in seven MSD patients. In patient fibroblasts, the activity of sulfatases is partially restored by transduction of FGE encoding cDNA, but not by cDNA carrying an MSD mutation. The gene encoding FGE is highly conserved among pro- and eukaryotes and has a paralog of unknown function in vertebrates. FGE is localized in the endoplasmic reticulum and is predicted to have a tripartite domain structure.  (+info)

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. (4/29)

In multiple sulfatase deficiency (MSD), a human inherited disorder, the activities of all sulfatases are impaired due to a defect in posttranslational modification. Here we report the identification, by functional complementation using microcell-mediated chromosome transfer, of a gene that is mutated in MSD and is able to rescue the enzymatic deficiency in patients' cell lines. Functional conservation of this gene was observed among distantly related species, suggesting a critical biological role. Coexpression of SUMF1 with sulfatases results in a strikingly synergistic increase of enzymatic activity, indicating that SUMF1 is both an essential and a limiting factor for sulfatases. These data have profound implications on the feasibility of enzyme replacement therapy for eight distinct inborn errors of metabolism.  (+info)

Endocytic trafficking of glycosphingolipids in sphingolipid storage diseases. (5/29)

In this review, recent studies of membrane lipid transport in sphingolipid (SL) storage disease (SLSD) fibroblasts are summarized. Several fluorescent glycosphingolipid (GSL) analogues are internalized from the plasma membrane via caveolae and are subsequently transported to the Golgi complex of normal fibroblasts, while in 10 different SLSD cell types, these lipids accumulate in endosomes and lysosomes. Additional studies have shown that cholesterol homeostasis is perturbed in multiple SLSDs secondary to accumulation of endogenous SLs, and that mis-targeting of the GSLs is regulated by cellular cholesterol. Golgi targeting of GSLs internalized via caveolae is dependent on microtubules and phosphoinositide 3-kinase(s) and is inhibited by expression of dominant-negative rab7 and rab9 constructs. Overexpression of wild-type rab7 or rab9 (but not rab11) in Niemann-Pick C fibroblasts results in correction of lipid trafficking defects, including restoration of Golgi targeting of fluorescent lactosylceramide and endogenous GM1 ganglioside (monitored by the transport of fluorescent cholera toxin), and a dramatic reduction in accumulation of intracellular cholesterol. These results suggest an approach for restoring normal lipid trafficking in this, and perhaps other, SLSD cell types, and may provide a basis for future therapy of these diseases.  (+info)

Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention. (6/29)

The physiological importance of the degradative processes in lysosomes is revealed by the existence of at least 40 distinct inherited diseases, the so-called lysosomal storage disorders. Most of these diseases are caused by a deficiency in a single lysosomal enzyme, or essential cofactor, and result in the lysosomal accumulation of one, or sometimes several, natural compounds. The most prevalent subgroup of the lysosomal storage disorders is formed by the sphingolipidoses, inherited disorders that are characterized by excessive accumulation of one or multiple (glyco)sphingolipids. The biology of glycosphingolipids has been extensively discussed in other contributions during this symposium. This review will therefore focus in depth on (type 1) Gaucher disease, a prototypical glycosphingolipidosis. The elucidation of the primary genetic defect, being a deficiency in the lysosomal glucocerebrosidase, is described. Characterization of glucocerebrosidase at protein and gene level has subsequently opened avenues for therapeutic intervention. The development of successful enzyme replacement therapy for type 1 Gaucher disease is discussed. Attention is also paid to the alternative approach of substrate modulation using orally administered inhibitors of glucosylceramide synthesis. Novel developments about the monitoring of age of onset, progression and correction of disease are described. The remaining challenges about pathophysiology of glycosphingolipidoses are discussed in view of further improvements in therapy for these debilitating disorders.  (+info)

Enzyme replacement therapy: conception, chaos and culmination. (7/29)

Soon after the enzymatic defects in Gaucher disease and in Niemann-Pick disease were discovered, enzyme replacement or enzyme supplementation was proposed as specific treatment for patients with these and related metabolic storage disorders. While relatively straightforward in concept, successful implementation of this approach required many years of intensive effort to bring it to fruition. Procedures were eventually developed to produce sufficient quantities of the requisite enzymes for clinical trials and to target therapeutic enzymes to lipid-storing cells. These achievements led to the development of effective enzyme replacement therapy for patients with Gaucher disease and for Fabry disease. These demonstrations provide strong incentive for the application of this strategy for the treatment of many human disorders of metabolism.  (+info)

Gene therapy: prospects for glycolipid storage diseases. (8/29)

Lysosomal storage diseases comprise a group of about 40 disorders, which in most cases are due to the deficiency of a lysosomal enzyme. Since lysosomal enzymes are involved in the degradation of various compounds, the diseases can be further subdivided according to which pathway is affected. Thus, enzyme deficiencies in the degradation pathway of glycosaminoglycans cause mucopolysaccharidosis, and deficiencies affecting glycopeptides cause glycoproteinosis. In glycolipid storage diseases enzymes are deficient that are involved in the degradation of sphingolipids. Mouse models are available for most of these diseases, and some of these mouse models have been used to study the applicability of in vivo gene therapy. We review the rationale for gene therapy in lysosomal disorders and present data, in particular, about trials in an animal model of metachromatic leukodystrophy. The data of these trials are compared with those obtained with animal models of other lysosomal diseases.  (+info)

Sphingolipidoses are a group of inherited metabolic disorders characterized by the accumulation of sphingolipids in various tissues and organs due to deficiencies in enzymes involved in sphingolipid metabolism. Sphingolipids are a type of lipid molecule that play important roles in cell membranes, signal transduction, and cell recognition.

Examples of sphingolipidoses include Gaucher's disease, Tay-Sachs disease, Niemann-Pick disease, Fabry disease, and Krabbe disease, among others. These disorders can affect various organs and systems in the body, including the brain, liver, spleen, bones, and nervous system, leading to a range of symptoms such as developmental delay, seizures, movement disorders, enlarged organs, and skin abnormalities.

Treatment for sphingolipidoses typically involves managing symptoms and addressing complications, although some forms of these disorders may be amenable to enzyme replacement therapy or stem cell transplantation.

... are a class of lipid storage disorders or degenerative storage disorders caused by deficiency of an enzyme ... Taken together, sphingolipidoses have an incidence of approximately 1 in 10,000, but substantially more in certain populations ... Reviewed September 2007 Sphingolipidoses at the U.S. National Library of Medicine Medical Subject Headings (MeSH) (Articles ... and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 ...
Sphingolipidoses are a group of diseases that are associated with the accumulation of sphingolipids which have not been ... Sphingolipidoses are typically inherited, and their effects depend on which enzyme is affected, and the degree of impairment. ... Sandhoff K (1974). "Sphingolipidoses". Journal of Clinical Pathology. 8 (12): 94-105. doi:10.1136/jcp.s3-8.1.94. PMC 1347206. ...
Sphingolipidoses Structures of GM1, GM2, GM3 gangliosides Mocchetti I (2005). "Exogenous gangliosides, neuronal plasticity and ...
Taken together, sphingolipidoses have an incidence of approximately 1 in 10,000. Enzyme replacement therapy is available mainly ... Many lipid storage disorders can be classified into the subgroup of sphingolipidoses, as they relate to sphingolipid metabolism ... Other lipid storage disorders that generally are not classified as sphingolipidoses include fucosidosis, Schindler disease, and ... some of the sphingolipidoses may be classified into either GM1 gangliosidoses or GM2 gangliosidoses. Tay-Sachs disease belongs ...
Taken together, sphingolipidoses have an incidence of approximately 1 in 10,000, but substantially more in certain populations ... Sphingolipidoses, or disorders of sphingolipid metabolism, have particular impact on neural tissue. A sphingolipid with a ... known as sphingolipidoses. The main members of this group are Niemann-Pick disease, Fabry disease, Krabbe disease, Gaucher ... and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 ...
They are inherited, autosomal recessive sphingolipidoses, a class of lipid storage disorders. Diagnosis of GM1 can be obtained ...
GM1 gangliosidoses - GM1 GM2 gangliosidoses - GM2 Sphingolipidoses#Overview Prayson, Richard A. (2012). Neuropathology. ...
September 2016). "Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses". Science ...
Sphingolipidoses#Overview for an overview table, including sulfatidosis "Definition: sulfatidosis from Online Medical ...
... is a type of GM2 gangliosidosis and sphingolipidosis. The treatment of Tay-Sachs disease is supportive in ...
Sphingolipidosis, and Allied Disorders: Advances in Experimental Medicine and Biology. Advances in Experimental Medicine and ...
"Rab8-dependent recycling promotes endosomal cholesterol removal in normal and sphingolipidosis cells". Molecular Biology of the ...
Ganglioside GM2 activator protein Sphingolipidoses Structures of GM1, GM2, GM3 gangliosides Guetta E, Peleg L (2008). Rapid ...
... the mucolipidoses derived their name from the similarity in presentation to both mucopolysaccharidoses and sphingolipidoses. A ...
In man, the deficiency of this enzyme is the cause of Fabry's disease (X-linked sphingolipidosis). Alpha-galactosidase is ...
In man, the deficiency of this enzyme is the cause of Fabry's disease (X-linked sphingolipidosis). Alpha-galactosidase is ...
... sphingolipidosis, and more caused by a defect in posttranslational modification". International Journal of Molecular Sciences. ...
It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of ... American actor Sphingolipidoses Lysosomal storage disease Niemann-Pick disease Fabry disease Tay-Sachs disease Krabbe disease ...
Incorrect breakdown of these lipids leads to a group of diseases known as sphingolipidoses, which are often characterised by ...
... a type of sphingolipidosis. It can also be a sign of hypocalcemia. Dental paresthesia is loss of sensation caused by maxillary ...
They can be considered as a kind of sphingolipidosis, which is included in the larger family of lysosomal storage diseases. ... Niemann-Pick diseases are a subgroup of lipid storage disorders called sphingolipidoses in which harmful quantities of fatty ...
Gaucher's disease is a sphingolipidosis described by a particular inadequacy in acidic glucocerebrosidase, which results in ...
... is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses ...
... sphingolipidoses MeSH C10.228.140.163.100.435.825.200 - fabry disease MeSH C10.228.140.163.100.435.825.300 - gangliosidoses ...
... s include: Sphingolipidoses Ceramidase Farber disease Krabbe disease Infantile onset Late onset ... Lipid storage disorders Sphingolipidoses, including Gaucher's and Niemann-Pick diseases (E75.0-E75.1) Gangliosidosis (including ...
doi:10.1016/S0021-9258(17)34955-4. Sphingolipidoses General structures of sphingolipids Sphingosine at the U.S. National ...
... sphingolipidoses MeSH C18.452.100.100.435.825.200 - fabry disease MeSH C18.452.100.100.435.825.300 - gangliosidoses MeSH ... sphingolipidoses MeSH C18.452.648.151.435.825.200 - Fabry disease MeSH C18.452.648.151.435.825.300 - gangliosidoses MeSH ... sphingolipidoses MeSH C18.452.648.151.825.200 - Fabry disease MeSH C18.452.648.151.825.300 - gangliosidoses MeSH C18.452. ... sphingolipidoses MeSH C18.452.648.556.641.803.300 - Fabry disease MeSH C18.452.648.556.641.803.350 - gangliosidoses MeSH ...
... sphingolipidoses MeSH C16.320.565.150.435.825.200 - Fabry disease MeSH C16.320.565.150.435.825.300 - gangliosidoses MeSH ... sphingolipidoses MeSH C16.320.565.556.641.803.300 - Fabry disease MeSH C16.320.565.556.641.803.350 - gangliosidoses MeSH ... sphingolipidoses MeSH C16.320.565.580.554.825.200 - Fabry disease MeSH C16.320.565.580.554.825.300 - gangliosidoses MeSH ... sphingolipidoses MeSH C16.320.565.580.803.300 - Fabry disease MeSH C16.320.565.580.803.350 - gangliosidoses MeSH C16.320. ...
Tay-Sachs disease with respect to chemical pathology and ultrastructure and also different from other forms of sphingolipidoses ...
Sphingolipidoses Niemann-Pick disease Gaucher disease Leukodystrophies Adrenoleukodystrophy Metachromatic leukodystrophy Krabbe ...
Sphingolipidoses are a class of lipid storage disorders or degenerative storage disorders caused by deficiency of an enzyme ... Taken together, sphingolipidoses have an incidence of approximately 1 in 10,000, but substantially more in certain populations ... Reviewed September 2007 Sphingolipidoses at the U.S. National Library of Medicine Medical Subject Headings (MeSH) (Articles ... and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 ...
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Iman G. Mahmoud, 1, 2 Mohamed A. Elmonem, 1 Nour M. Elkhateeb, 1 Walaa Elnaggar, 1 Ahmed Sobhi, 1 Marian Y.Girgis, 1 Mona Kamel, 1 Yara Shaheen, 1 Mona Samaha, 1 Areef Ramadan, et al., Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations, Clinical genetics, vol. DOI: 10.1111/cge.13492, issue DOI: 10.1111/cge.13492, pp. 1-3 , 2019. ...
Osmosis Sphingolipidoses high-yield notes offers clear overviews with striking illustrations, tables, and diagrams. Make ... This Osmosis High-Yield Note provides an overview of Sphingolipidoses essentials. All Osmosis Notes are clearly laid-out and ... NOTES NOTES SPHINGOLIPIDOSIS GENERALLY, WHAT IS IT? PATHOLOGY & CAUSES ▪ Lysosomal storage diseases ▪ Metabolic disorders ... This Osmosis High-Yield Note provides an overview of Sphingolipidoses essentials. All Osmosis Notes are clearly laid-out and ...
Heat shock protein-based therapy for sphingolipidoses Kirkegaard T., Gray J., Priestman D., Wallom K-L., Petersen N., Ingemann ...
Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses. ... Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses. ...
For the most part, sphingolipidoses affect the retina, not the cornea, except in Fabry disease, an X-linked recessive disease. ...
Sphingolipidoses. The sphingolipidoses are as follows:. * Niemann-Pick disease type A (sphingomyelinase deficiency) and Niemann ... Recent advances in the biochemistry and genetics of sphingolipidoses. Brain Dev. 2004 Dec. 26(8):497-505. [QxMD MEDLINE Link]. ... Lysosomal storage diseases are generally classified by the accumulated substrate and include the sphingolipidoses, ... sphingolipidoses, and lipidoses as well as peroxisome disorders such as X-linked adrenoleukodystrophy. Although longitudinal ...
Sphingolipidosis, unspecified E75.5 Other lipid storage disorders E75.6 Lipid storage disorder, unspecified ...
Sphingolipidosis, Tay-Sachs, see Tay-Sachs disease. *Sphingomyelin lipidosis, see Niemann-Pick disease ...
Each petrochemical complex profile includes core details such as complex name, location, complex status, start year, annual petrochemical capacity (mtpa) for the period 2015-2030, key feedstock, key products produced, operator, technology, key products capacity and capacity share of the total annual capacity of the complex. We also provide contractor details such as EPC/Design & FEED contractors for the petrochemical complex. This is an on-demand report that will be delivered upon request. The report will be delivered within 1 business day... ...
Sphingolipidoses/Gangliosidoses: GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis ...
Pharmaceuticals Market report contains a holistic evaluation of the market including a comprehensive analysis of key segments, trends, drivers, competitive landscape, and factors that are playing a significant role in the market.
Sphingolipidoses/Gangliosidoses: GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis ...
Fabry disease Fabry Disease Fabry disease is a type of lysosomal storage disorder called a sphingolipidosis. It is caused by a ... Gaucher disease Gaucher Disease Gaucher disease is a type of lysosomal storage disorder called a sphingolipidosis. It is caused ... Sphingolipidoses occur when people do not have the enzymes needed to break down sphingolipids, which are compounds that protect ... Krabbe disease Krabbe Disease Krabbe disease is a type of lysosomal storage disorder called a sphingolipidosis. It causes ...
Sphingolipidosis, Tay Sachs; Tay Sachs Disease; Tay Sachs Disease, B Variant; Tay-Sachs Sphingolipidosis; alpha-Subunit ... Sphingolipidosis, Tay-Sachs; Amaurotic Idiocy, Familial; Deficiencies, Hexosaminidase A; Deficiencies, Hexosaminidase alpha- ...
Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study. Clin Chem ...
... biochemical signs of combined sphingolipidoses. Eur. J. Pediatrics 149, 31-39 (1989). ...
Sphingolipidoses, Krabbe type. The U.S. Social Security Administration (SSA) has included Krabbe Disease (KD) - Infantile as a ...
Sphingolipidoses [C16.320.565.189.435.825]. *Gaucher Disease [C16.320.565.189.435.825.400]. *Lipid Metabolism, Inborn Errors [ ...
Sphingolipidoses [C16.320.565.398.641.803]. *Niemann-Pick Diseases [C16.320.565.398.641.803.730]. *Lysosomal Storage Diseases [ ...
Fabry disease Fabry Disease Fabry disease is a type of lysosomal storage disorder called a sphingolipidosis. It is caused by a ... Gaucher disease Gaucher Disease Gaucher disease is a type of lysosomal storage disorder called a sphingolipidosis. It is caused ... Sphingolipidoses occur when people do not have the enzymes needed to break down sphingolipids, which are compounds that protect ... Krabbe disease Krabbe Disease Krabbe disease is a type of lysosomal storage disorder called a sphingolipidosis. It causes ...
Reported storage diseases in cats: mannosidosis, mucopolysaccharidosis, glycogenosis, sphingolipidosis and lipofuscinosis. ...
Modeling the sphingolipidoses: GM2 gangliosidoses and Gaucher disease. [R. Proia]. National Institute of Health, USA, ...
Fabry disease Fabry Disease Fabry disease is a type of lysosomal storage disorder called a sphingolipidosis. It is caused by a ... Gaucher disease Gaucher Disease Gaucher disease is a type of lysosomal storage disorder called a sphingolipidosis. It is caused ... Sphingolipidoses occur when people do not have the enzymes needed to break down sphingolipids, which are compounds that protect ... Krabbe disease Krabbe Disease Krabbe disease is a type of lysosomal storage disorder called a sphingolipidosis. It causes ...
... and sphingolipidosis. The FASEB journal, 2015, 29, doi: 10.1096/fj.13-247585 ...
In patients suspected of a lipid storage disorder (sphingolipidoses, lipidoses), confirmation of the diagnosis relies ...
Misintend in to whose periureteritis brangler, hyperchromicities hygroscopically happen me unvizarded sphingolipidosis at buy ...
Sphingolipidoses. The sphingolipidoses are as follows:. * Niemann-Pick disease type A (sphingomyelinase deficiency) and Niemann ... Recent advances in the biochemistry and genetics of sphingolipidoses. Brain Dev. 2004 Dec. 26(8):497-505. [QxMD MEDLINE Link]. ... Lysosomal storage diseases are generally classified by the accumulated substrate and include the sphingolipidoses, ... sphingolipidoses, and lipidoses. Although longitudinal natural history data are limited, published guidelines are available to ...
  • Accumulated data indicate that hematopoietic stem cell transplantation may be effective under optimal conditions in preventing the progression of central nervous system symptoms in neuronopathic forms of lysosomal storage diseases (such as Krabbe disease), including some of the mucopolysaccharidoses, oligosaccharidoses, sphingolipidoses, and lipidoses as well as peroxisome disorders such as X-linked adrenoleukodystrophy. (medscape.com)
  • Accumulated data indicate that hematopoietic stem cell transplantation may be effective under optimal conditions in preventing the progression of central nervous system symptoms in neuronopathic forms of lysosomal storage diseases, including some of the mucopolysaccharidoses, oligosaccharidoses, sphingolipidoses, and lipidoses. (medscape.com)
  • Lysosomal storage disorders (LSDs) are predominantly very rare recessive autosomal neurodegenerative diseases.Sphingolipidoses, a sub-group of LSDs, result from defects in lysosomal enzymes involved in sphingolipid catabolism, and feature disrupted storage systems which trigger complex pathogenic cascades with other organelles collaterally affected. (ntu.ac.uk)
  • Sphingolipidoses are a class of lipid storage disorders or degenerative storage disorders caused by deficiency of an enzyme that is required for the catabolism of lipids that contain ceramide, also relating to sphingolipid metabolism. (wikipedia.org)
  • Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. (wikipedia.org)
  • Lysosomal storage diseases are generally classified by the accumulated substrate and include the sphingolipidoses, oligosaccharidoses, mucolipidoses, mucopolysaccharidoses (MPSs), lipoprotein storage disorders, lysosomal transport defects, neuronal ceroid lipofuscinoses and others. (medscape.com)
  • METABOLIC DISORDERS IN SPHINGOLIPIDOSES 45 Norden, A. G. , Tennant, L. & O'Brien, J. S. -galactosidase A. Purification and studies of the enzyme from human liver. (enryweb.it)
  • One valuable approach to gaining insights into the global impact of lysosomal dysfunction is through metabolomics, which represents a discovery tool for investigating disease-induced modifications in the patterns of large numbers of simultaneously-analysed metabolites, which also features the identification of biomarkers Here, the scope and applications of metabolomics strategies to the investigation of sphingolipidoses is explored in order to facilitate our understanding of the biomolecular basis of these conditions. (ntu.ac.uk)
  • This review therefore surveys the benefits of applying 'state-of-the-art' metabolomics strategies, both univariate and multivariate, to sphingolipidoses, particularly Niemann-Pick type C disease. (ntu.ac.uk)
  • This led to the identity of several sphingolipidoses, such as Tay-Sachs disease. (hekint.org)
  • Through this sphingolipidosis (lysosomal storage disease) there can be found a accumulation of sphingolipids in cells. (tu-muenchen.de)
  • Galactosidase A are the cause of Fabry disease (FD) which is a rare X-linked sphingolipidosis disease with glycolipid accumulates in many tissues. (assaygenie.com)
  • 11) Lipid metabolism, dyslipidemia and atherosclerosis, sphingolipidoses. (unict.it)
  • Sphingolipidoses are defined as a group of rare hereditary diseases resulting from mutations in the genes encoding lysosomal enzymes. (bvsalud.org)
  • Sphingolipidoses occur when people do not have the enzymes needed to break down sphingolipids, which are compounds that protect the cell surface and serve certain functions in the cells. (merckmanuals.com)
  • Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses. (ox.ac.uk)
  • Sphingolipidoses are a class of lipid storage disorders or degenerative storage disorders caused by deficiency of an enzyme that is required for the catabolism of lipids that contain ceramide, also relating to sphingolipid metabolism. (wikipedia.org)
  • Sphingolipidoses affect enzymes from the sphingolipid degradation pathway. (nih.gov)
  • Sphingolipidoses , or disorders of sphingolipid metabolism, have particular impact on neural tissue . (cloudfront.net)
  • Glycosphingolipids are endocytosed and targeted to the Golgi apparatus, but are mistargeted to lysosomes in numerous sphingolipidoses. (ox.ac.uk)
  • This is referred to as sphingolipidoses, which stands for hereditary metabolic disorders and leads to inborn errors in the metabolism. (epainassist.com)
  • Sphingolipidoses are defined as a group of rare hereditary diseases resulting from mutations in the genes encoding lysosomal enzymes. (nih.gov)
  • Taken together, sphingolipidoses have an incidence of approximately 1 in 10,000, but substantially more in certain populations such as Ashkenazi Jews. (wikipedia.org)
  • A lysosomal storage disease belonging to the group of sphingolipidoses. (globalgenes.org)