Classically, lysosomal storage diseases encompassed only enzyme deficiencies of the lysosomal hydrolases. (medscape.com)
Therefore, the enzyme activity of multiple lysosomal hydrolases is increased in plasma and other body fluids. (ggc.org)
The activity of 4 lysosomal hydrolases are measured from a dried blood spot. (ggc.org)
Glycoside hydrolases that catalyze the hydrolysis of alpha or beta linked MANNOSE . (lookformedical.com)
Enzyme activity2
The defects in enzyme activity are primarily associated with genetic mutation of the genes that codes for a particular mannosidase isoenzyme. (ouhsc.edu)
Previous work in mammalian models reported altered lysosomal enzyme activity due to mutation or loss of CLN5 . (frontiersin.org)
Enzymes3
More recently, the concept of lysosomal storage disease has been expanded to include deficiencies or defects in proteins necessary for the normal post-translational modification of lysosomal enzymes (which themselves are often glycoproteins), activator proteins, or proteins important for proper intracellular trafficking between the lysosome and other intracellular compartments. (medscape.com)
In ML II and ML IIIA, lysosomal hydrolase enzymes are not properly targeted to the lysosome. (ggc.org)
Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages (MANNOSIDASES). (ouhsc.edu)
Diseases12
Lysosomal storage diseases describe a heterogeneous group of dozens of rare inherited disorders characterized by the accumulation of undigested or partially digested macromolecules, which ultimately results in cellular dysfunction and clinical abnormalities. (medscape.com)
More than 50 lysosomal storage diseases have been described, some of which are discussed in this article. (medscape.com)
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)
Thus far, ERT has been largely unsuccessful in improving central nervous system manifestations of the lysosomal storage diseases, putatively due to difficulty in penetrating the blood-brain barrier. (medscape.com)
This has led to active clinical trials evaluating the safety and efficacy of intrathecal enzyme delivery in several lysosomal storage diseases (see www.ClinicalTrials.gov ). (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 (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)
The availability of both ERT and hematopoietic stem cell transplantation has prompted ongoing consideration of newborn screening efforts to diagnose lysosomal storage diseases. (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)
Mannosidase Deficiency Diseases" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (ouhsc.edu)
This graph shows the total number of publications written about "Mannosidase Deficiency Diseases" by people in this website by year, and whether "Mannosidase Deficiency Diseases" was a major or minor topic of these publications. (ouhsc.edu)
Below are the most recent publications written about "Mannosidase Deficiency Diseases" by people in Profiles. (ouhsc.edu)
The NCLs, commonly referred to as Batten disease, are a family of neurodegenerative lysosomal storage diseases that affect all ages and ethnicities globally. (frontiersin.org)
MANNOSIDOSIS15
Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body. (medlineplus.gov)
Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges from infancy to adulthood. (medlineplus.gov)
Almost all individuals with beta-mannosidosis experience intellectual disability, and some have delayed motor development and seizures. (medlineplus.gov)
People with beta-mannosidosis are often extremely introverted. (medlineplus.gov)
People with beta-mannosidosis may experience an increased risk of respiratory and ear infections, hearing loss, speech impairment, swallowing difficulties, poor muscle tone (hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy). (medlineplus.gov)
Beta-mannosidosis is believed to be a very rare disorder. (medlineplus.gov)
It is difficult to determine the specific incidence of beta-mannosidosis, because people with mild or non-specific symptoms may never be diagnosed. (medlineplus.gov)
Variants (also known as mutations) in the MANBA gene cause beta-mannosidosis. (medlineplus.gov)
These disaccharides gradually accumulate in the lysosomes and cause cells to malfunction, resulting in the signs and symptoms of beta-mannosidosis. (medlineplus.gov)
Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. (medlineplus.gov)
Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations. (medlineplus.gov)
Gort L, Duque J, Fabeiro JM, Zulaica A, Coll MJ, Chabas A. Molecular analysis in two beta-mannosidosis patients: description of a new adult case. (medlineplus.gov)
Molho-Pessach V, Bargal R, Abramowitz Y, Doviner V, Ingber A, Raas-Rothschild A, Ne'eman Z, Zeigler M, Zlotogorski A. Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation. (medlineplus.gov)
Uchino Y, Fukushige T, Yotsumoto S, Hashiguchi T, Taguchi H, Suzuki N, Konohana I, Kanzaki T. Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation. (medlineplus.gov)
Defects in the lysosomal form of the enzyme results in a buildup of mannoside intermediate metabolites and the disease ALPHA-MANNOSIDOSIS. (harvard.edu)
MANBA2
The MANBA gene provides instructions for making the enzyme beta-mannosidase. (medlineplus.gov)
Variants in the MANBA gene interfere with the ability of the beta-mannosidase enzyme to perform its role in breaking down mannose-containing disaccharides. (medlineplus.gov)
Syndrome2
Deficiencies in the protein can result in galactosialidosis or Morquio B syndrome . (wikidoc.org)
Defining a new immune deficiency syndrome: MAN2B2-CDG. (harvard.edu)
Hydrolase2
β-galactosidase , also called lactase , beta-gal or β-gal , is a glycoside hydrolase enzyme that catalyzes the hydrolysis of β-galactosides into monosaccharides through the breaking of a glycosidic bond . (wikidoc.org)
A few are evolved beta-galactosidase (EBG), beta-glucosidase , 6-phospho-beta-galactosidase, beta-mannosidase, and lactase-phlorizin hydrolase. (wikidoc.org)
Mutations2
Age of onset and clinical manifestations may vary widely among patients with a given lysosomal storage disease, and significant phenotypic heterogeneity between family members carrying identical mutations has been reported. (medscape.com)
BACKGROUND: Fabry disease (FD) is a rare lysosomal storage disorder caused by mutations in the GLA gene, resulting in reduced or lack of α-galactosidase A activity. (bvsalud.org)
Lipoprotein1
Crystal structures of human lysosomal EPDR1 reveal homology with the superfamily of bacterial lipoprotein transporters. (uni-bielefeld.de)
Genes2
In this study, we used comparative transcriptomics to identify differentially expressed genes underlying cln5 -deficiency phenotypes during growth and the early stages of multicellular development. (frontiersin.org)
Overall, this study reveals the impact of cln5 -deficiency on gene expression in D. discoideum , provides insight on the genes and proteins that play a role in regulating Cln5-dependent processes, and sheds light on the molecular mechanisms underlying CLN5 disease. (frontiersin.org)
Disorder2
In general, transplantation yields the best results when performed early in the course of the disease (ie, in an asymptomatic affected sibling of a child with a lysosomal storage disorder), in centers with experience in performing transplantations to treat inherited metabolic disorders, and in patients healthy enough to tolerate the conditioning and transplantation regimen. (medscape.com)
Gene therapy is experimental but in the future may help correct both somatic and neurologic abnormalities in a lysosomal storage disorder. (medscape.com)
Lactose2
Beta-galactose is used in such dairy products as yogurt, sour cream, and some cheeses which are treated with the enzyme to break down any lactose before human consumption. (wikidoc.org)
In recent years, beta-galactosidase has been researched as a potential treatment for lactose intolerance through gene replacement therapy where it could be placed into the human DNA so individuals can break down lactose on their own. (wikidoc.org)
MESH1
alpha-Mannosidase" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
Galactosidase1
Beta-galactosidase has many homologues based on similar sequences. (wikidoc.org)
Severity1
A very rare lysosomal storage disease with characteristics of developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. (nictiz.nl)
Galactose2
[3] Beta-gal is inhibited by L-ribose , non-competitive inhibitor iodine , and competitive inhibitors phenylthyl thio-beta-D-galactoside (PETG), D-galactonolactone, isopropyl thio-beta-D-galactoside (IPTG) , and galactose. (wikidoc.org)
Deficiency of galactosyl-1-phosphate uridyltransferase (GALACTOSE-1-PHOSPHATE URIDYL-TRANSFERASE DEFICIENCY DISEASE) causes an error in galactose metabolism called GALACTOSEMIA, resulting in elevations of galactose in the blood. (lookformedical.com)
Multiple2
There are multiple isoforms of alpha-mannosidase, each having its own specific cellular location and pH optimum. (harvard.edu)
Lysosomal enzyme tripeptidyl peptidase 1 destabilizes fibrillar Aβ by multiple endoproteolytic cleavages within the β-sheet domain. (uni-bielefeld.de)
Function2
Many adult humans lack the lactase enzyme, which has the same function of beta-gal, so they are not able to properly digest dairy products. (wikidoc.org)
Importance of TFEB acetylation in control of its transcriptional activity and lysosomal function in response to histone deacetylase inhibitors. (uni-bielefeld.de)
Alpha4
The assay uses 4-methylumbelliferyl substrates to measure the activities of acid sphingomyelinase, alpha-iduronidase, beta-glucosidase, and alpha-mannosidase. (ggc.org)
This graph shows the total number of publications written about "alpha-Mannosidase" by people in Harvard Catalyst Profiles by year, and whether "alpha-Mannosidase" was a major or minor topic of these publication. (harvard.edu)
Below are the most recent publications written about "alpha-Mannosidase" by people in Profiles. (harvard.edu)
Carbohydrates consisting of between two (DISACCHARIDES) and ten MONOSACCHARIDES connected by either an alpha- or beta-glycosidic link. (lookformedical.com)
View1
If you have pelvic download The, you may locate to be as one deficiency of view anti-TB. (lakesinclair.org)
Features1
To see the latest features, please visit our beta site . (glycosmos.org)
Enzyme9
medical citation needed] Beta-mannosidase function is consistent with it being a lysosomal enzyme catalyzing and thus involved in degradation route for N-linked oligosaccharide moieties (glycoproteins). (wikipedia.org)
Classically, lysosomal storage diseases encompassed only enzyme deficiencies of the lysosomal hydrolases. (medscape.com)
This has led to active clinical trials evaluating the safety and efficacy of intrathecal enzyme delivery in several lysosomal storage diseases (see www.ClinicalTrials.gov ). (medscape.com)
OMIM248510), first reported in humans in 1986, is a rare hereditary lysosomal storage disease caused by a deficiency of the enzyme beta-mannosidase. (nih.gov)
Ultrastructural analyses, enzyme assays, cell culture and mRNA and genomic DNA were sequenced to find mutations in the beta-mannosidase gene. (nih.gov)
Assays of seven enzyme activities in plasma and cultured skin fibroblasts showed a marked decrease of beta-mannosidase activity. (nih.gov)
It is characterized by deficiency of the enzyme electron transfer flavoprotein or the enzyme electron transfer flavoprotein dehydrogenase. (nih.gov)
An enzyme that catalyzes the hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides. (bvsalud.org)
The enzyme plays a role in the lysosomal degradation of the N-glycosylprotein glycans. (bvsalud.org)
Glycoproteins1
More recently, the concept of lysosomal storage disease has been expanded to include deficiencies or defects in proteins necessary for the normal post-translational modification of lysosomal enzymes (which themselves are often glycoproteins), activator proteins, or proteins important for proper intracellular trafficking between the lysosome and other intracellular compartments. (medscape.com)
Intermediate metabolites1
An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich intermediate metabolites containing 1,4-beta linkages. (nih.gov)
Electron1
The 4-aminobutyrate form beta-hydroxybutyrate yeast issue( ORC) is the pacemaker electron of phase beta and share of the cancer aka. (erik-mill.de)
Disorders3
Lysosomal storage diseases describe a heterogeneous group of dozens of rare inherited disorders characterized by the accumulation of undigested or partially digested macromolecules, which ultimately results in cellular dysfunction and clinical abnormalities. (medscape.com)
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)
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)
Storage diseases4
More than 50 lysosomal storage diseases have been described, some of which are discussed in this article. (medscape.com)
Thus far, ERT has been largely unsuccessful in improving central nervous system manifestations of the lysosomal storage diseases, putatively due to difficulty in penetrating the blood-brain barrier. (medscape.com)
The availability of both ERT and hematopoietic stem cell transplantation has prompted ongoing consideration of newborn screening efforts to diagnose lysosomal storage diseases. (medscape.com)
There are seven well-known lysosomal storage diseases that produce angiokeratoma corporis diffusum clinically. (nih.gov)
Mutation1
A human beta-mannosidase mutation has been reported only by Alkhayat et al. (nih.gov)
Order1
Ligand 2-arachidonoylglycerol phosphorylates a abasic bind in NOTCH3, which stops the lysosomal thrombosis in the GM1 order of NOTCH3. (evakoch.com)
Ability1
There trigger inhibitors that NOTCH2 long is with orotate small psychosis 1-beta( HNF1B) in ability electromyography( Massa et al. (evakoch.com)