• Angiokeratoma corporis diffusum is the cutaneous hallmark of Fabry disease, an X-linked inherited disorder caused by a deficiency in the lysosomal enzyme alpha-galactosidase A. Decreased or absent enzyme activity causes uncleaved glycosphingolipids to accumulate in various cell types, particularly in the vascular endothelium, smooth muscle cells, and pericytes, causing ischemia and infarction of tissues. (medscape.com)
  • Lysosomal storage disorders are caused by a deficiency or absence of required enzymes. (conduent.com)
  • Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. (nih.gov)
  • GM1 gangliosidosis is due to an inherited deficiency of the enzyme beta-galactosidase, whereas GM2 gangliosidosis is caused by a lack of the enzyme beta-hexosaminidase. (labogen.com)
  • Classically, lysosomal storage diseases encompassed only enzyme deficiencies of the lysosomal hydrolases. (medscape.com)
  • 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)
  • Mannosidosis is a group term for deficiencies in the enzyme mannosidase. (basepaws.com)
  • Generally, treatments of single enzyme deficiencies such as this one involve bone marrow transplantations and enzyme replacements. (basepaws.com)
  • Inherited defects or deficiencies of lysosomal enzymes (or other lysosomal components) can result in accumulation of undegraded metabolites. (msdmanuals.com)
  • MPS are inherited deficiencies of enzymes involved in glycosaminoglycan breakdown. (msdmanuals.com)
  • Enzyme deficiencies that prevent glycosaminoglycan breakdown cause accumulation of glycosaminoglycan fragments in lysosomes and cause extensive bone, soft tissue, and central nervous system changes. (msdmanuals.com)
  • Mannosidosis is a deficiency in mannosidase, an enzyme. (wikipedia.org)
  • The MANBA gene provides instructions for making the enzyme beta-mannosidase. (medlineplus.gov)
  • Beta-mannosidase is involved in the last step of this process, helping to break down complexes of two sugar molecules (disaccharides) containing a sugar molecule called mannose. (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)
  • Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. (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)
  • Alpha mannosidosis is a lysosomal storage disorder which results in the decreased efficiency of the production of an enzyme called alpha-D-mannosidase. (basepaws.com)
  • Alpha mannosidosis is a lysosomal storage disorder which results in the deficiency of the production of the enzyme alpha-D-mannosidase. (basepaws.com)
  • Diagnosis of alpha-mannosidosis involves the detection of alpha-mannosidase enzyme activity in peripheral blood leukocytes, or white blood cells. (basepaws.com)
  • A in MANBA that predicts a p.Gly836Arg alteration in the encoded lysosomal enzyme ß -mannosidase. (bvsalud.org)
  • ß -Mannosidase enzyme activity was undetectable in brain tissue homogenates from the affected cat, whereas α-mannosidase enzyme activities were elevated compared to an unaffected cat. (bvsalud.org)
  • Based on these findings, the cat likely suffered from ß -mannosidosis due to the abolition of ß -mannosidase activity associated with the p.Gly836Arg amino acid substitution. (bvsalud.org)
  • The defects in enzyme activity are primarily associated with genetic mutation of the genes that codes for a particular mannosidase isoenzyme. (ouhsc.edu)
  • Insufficiency in lysosomal -D-mannosidase activity could cause -mannosidosis, a symptoms seen as a the deposition of glycoprotein protein to become degraded, leading to vacuolization in peripheral blood vessels fibroblasts and cells. (cancer-pictures.org)
  • When genetic variants relevant to a patient are then detected via CentoMetabolic MOx, we automatically complement the analysis with biomarkers and/or enzyme testing if applicable, and include the results in the medical report. (centogene.com)
  • Since long-term effective treatments for alpha-mannosidosis in cats have not been designed yet, it is not recommended to breed from mutation carriers in order to prevent the succession of the genetic anomaly to kittens. (basepaws.com)
  • Although both types of gangliosidoses cause fatal progressive brain disease, they are caused by entirely different genetic errors of two different lysosomal enzymes. (labogen.com)
  • Mucolipidosis II and III alpha/beta are genetic disorders caused by mutations in the GNPTAB gene. (jewishgenetics.org)
  • This enzyme is involved in the hydrolysis of the sugar mannose and can be found in two forms: α (alpha) and β (beta). (basepaws.com)
  • An enzyme that catalyzes the HYDROLYSIS of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. (harvard.edu)
  • Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages (MANNOSIDASES). (ouhsc.edu)
  • Angiokeratoma corporis diffusum is not unique to Fabry disease and has also been documented in several other rare lysosomal storage disorders such as fucosidosis, sialidosis, GM1 gangliosidosis, galactosialidosis, beta-mannosidosis, Kanzaki disease, and aspartylglucosaminuria. (medscape.com)
  • His research has been focused on the biochemistry and molecular biology of lysosomal enzymes and to study the pathophysiology of the lysosomal storage disorders. (ebtna.eu)
  • These conditions belong to a group of lysosomal storage disorders, where the lysosomes (cellular digestive system) don't work properly due to a missing enzyme called GlcNAc-1-phosphotransferase. (jewishgenetics.org)
  • Treatment of mucopolysaccharidosis type I is enzyme replacement with laronidase , which effectively halts progression and reverses all non-central nervous system complications of the disease. (msdmanuals.com)
  • His laboratory is involved in the diagnosis of alpha-mannosidosis, beta-mannosidosis, mucolipidosis type II and III. (ebtna.eu)
  • Mucolipidosis III alpha/beta appears around age 3, causing slowed growth, shorter height, less prominent coarse facial features, joint stiffness, but normal intelligence. (jewishgenetics.org)
  • Pamidronate might help with bone density and joint pain in mucolipidosis III alpha/beta, but it's not a cure. (jewishgenetics.org)
  • 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)
  • Diagnosis is confirmed by DNA analysis and/or enzyme analysis of cultured fibroblasts (prenatal) or peripheral white blood cells (postnatal). (msdmanuals.com)
  • mannosidases certainly are a grouped category of enzyme isoforms that are portrayed by many cells, included in this epithelial macrophages and cells. (cancer-pictures.org)
  • Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to proteins (glycoproteins). (medlineplus.gov)
  • An important gene associated with Hemorrhage, Intracerebral is ACE (Angiotensin I Converting Enzyme), and among its related pathways/superpathways are Signaling by Receptor Tyrosine Kinases and Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). (silexon.tech)
  • Proteases (PRs) of retroviruses cleave viral polyproteins into their mature structural proteins and replication enzymes. (shengsci.com)
  • Postmortem examination of brain and retinal tissues revealed massive accumulations of vacuolar inclusions in most cells, similar to those reported in animals of other species with hereditary ß -mannosidosis. (bvsalud.org)
  • Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. (medlineplus.gov)
  • Association with beta 2-microglobulin is generally required for the transport of class I heavy chains from the endoplasmic reticulum to the cell surface. (lookformedical.com)
  • These enzymes are portrayed in the endoplasmic reticulum generally, ER, and Golgi equipment, where their activity relates to the synthesis and Tedizolid manufacturer trimming of glycoproteins, and in the lysosomes, where their activity relates to glycoprotein degradation [2C4]. (cancer-pictures.org)
  • Defects in the lysosomal form of the enzyme results in a buildup of mannoside intermediate metabolites and the disease ALPHA-MANNOSIDOSIS. (harvard.edu)
  • Niemann-Pick types A and B result from accumulation of the fatty substance called sphingomyelin, due to deficiency of an enzyme called sphingomyelinase. (nih.gov)
  • Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges from infancy to adulthood. (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)
  • These disaccharides gradually accumulate in the lysosomes and cause cells to malfunction, resulting in the signs and symptoms of beta-mannosidosis. (medlineplus.gov)
  • Enzyme replacement therapy (ERT) appears safe and effective for peripheral manifestations in patients with Gaucher disease types I and III, Fabry disease, mucopolysaccharidosis I (Hurler, Hurler-Scheie, and Scheie syndromes), mucopolysaccharidosis II (Hunter syndrome), mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), Pompe disease, and recently Batten disease (neuronal ceroid lipofuscinoses, CLN2). (medscape.com)
  • Enzyme replacement therapy (ERT) appears safe and effective for peripheral manifestations in patients with Gaucher disease types I and III, Fabry disease, mucopolysaccharidosis I (Hurler, Hurler-Scheie, and Scheie syndromes), mucopolysaccharidosis II (Hunter syndrome), mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), and Pompe disease. (medscape.com)
  • Variants (also known as mutations) in the MANBA gene cause beta-mannosidosis. (medlineplus.gov)
  • Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations. (medlineplus.gov)
  • Krabbe disease is caused by mutations in the GALC gene (mapped to chromosome 14q) which encodes galactocerebrosidase, an enzyme that degrades galactosylceramide, a normal constituent of myelin. (radiopaedia.org)
  • This enzyme is involved in the digestion of complex sugars derived from glycoproteins. (basepaws.com)
  • The enzyme plays a role in the processing of newly formed N-glycans and in degradation of mature GLYCOPROTEINS. (harvard.edu)
  • In fucosidosis, there is an absence or near-absence of this enzyme and function, and thus these fucose-containing products accumulate within the body and deposit within various organs, such as the brain 1,2,5 . (radiopaedia.org)
  • Fucosidosis is caused by the lack of the enzyme alpha-fucosidase. (ismrd.org)
  • 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)
  • 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)
  • α-Glucosidase (α-D-Glucosidase), a carbohydrate hydrolyzing enzyme, catalyzes the liberation of α-glucose from the non-reducing end of the substrate. (medchemexpress.com)
  • Efforts are underway to develop enzyme replacement options for several other disorders. (medscape.com)
  • If you have one of these disorders, you may not have enough enzymes to break down the carbohydrates. (medlineplus.gov)
  • People with these disorders either do not produce enough of one of the enzymes needed to break down (metabolize) lipids or they produce enzymes that do not work. (nih.gov)
  • p.Gly836 is located in the C-terminal region of the protein and was not previously known to be involved in modulating enzyme activity. (bvsalud.org)
  • Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body. (medlineplus.gov)
  • Beta-mannosidosis is believed to be a very rare disorder. (medlineplus.gov)
  • Although there is high clinical and pathologic heterogeneity among the disease groups, the feline disorder has been linked to human α-mannosidosis (Cummings et al, 1988). (basepaws.com)
  • Introducción: La encefalopatía KIF1A-associated-neurological-disorder (KAND) es un grupo de patologías neurodegenerativas progresivas de diversa gravedad ocasionadas por mutaciones en el gen KIF1A (kinesin family member 1A) situado en el cromosoma 2q37.3. (bvsalud.org)
  • Pyruvate kinase deficiency is an inherited red blood cell enzyme disorder that causes chronic hemolysis. (conduent.com)
  • Lysosomal enzymes break down macromolecules, either those from the cell itself (eg, when cellular structural components are being recycled) or those acquired outside the cell. (msdmanuals.com)
  • Depending on which of these enzymes is deficient, human mannosidosis is classified as α-mannosidosis or β-mannosidosis (U.S. National Library of Medicine, 2018). (basepaws.com)
  • It is not recommended to breed carriers of Mannosidosis in order to prevent the progression of the condition to the offspring. (basepaws.com)
  • L-Dihydroorotic acid can reversibly hydrolyze to yield the acyclic L-ureidosuccinic acid by dihydrowhey enzyme. (medchemexpress.com)
  • 2,6-Dihydroxybenzoic acid is a secondary metabolite of salicylic acid which has been hydrolyzed by liver enzymes during phase I metabolism. (medchemexpress.com)
  • As a result of the lack of this lysosomal enzyme that breaks down the glycolipid, persons with Fabry disease have 3-10 times the normal amount in their serum. (medscape.com)
  • More recently his laboratory has participated to the development of a therapy for the lysosomal storage disease, alpha-mannosidosis. (ebtna.eu)
  • Furthermore, unlike other inborn errors of metabolism, unfortunately enzyme replacement therapy and substrate inhibition are not yet (as of March 2019) available 1 . (radiopaedia.org)
  • Before the development of enzyme replacement therapy, management of these conditions consisted of supportive care and treatment of the complications. (conduent.com)
  • Pancreatic enzyme replacement is indicated for the treatment of exocrine pancreatic insufficiency due to cystic fibrosis or other conditions. (conduent.com)
  • Normally your enzymes break carbohydrates down into glucose (a type of sugar). (medlineplus.gov)
  • Noen utvikler en spesiell type anfall med plutselig tap av muskeltonus utløst av taktil- eller hørselsstimulus (Stimulus Induced Drop Attacs/SIDA). (sjelden.no)
  • 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)
  • Almost all individuals with beta-mannosidosis experience intellectual disability, and some have delayed motor development and seizures. (medlineplus.gov)
  • Professor Tommaso Beccari has a long experience on lysosomal enzymes that begun in 1985 at the King's College of London UK in the laboratories of Prof. D. Robinson and Dr. JL Stirling, two pioneers in the field of lysosomes. (ebtna.eu)
  • Alpha, beta, and delta crystallins occur in avian and reptilian lenses, while alpha, beta, and gamma crystallins occur in all other lenses. (lookformedical.com)
  • Gamma-crystallins are similar in structure to BETA-CRYSTALLINS in that they both form into a Greek key-like structure. (lookformedical.com)
  • They contain catabolic enzymes, which require a low pH environment in order to function optimally. (medscape.com)
  • Beta-crystallins exist as oligomers formed from acidic (BETA-CRYSTALLIN A CHAIN) and basic (BETA-CRYSTALLIN B CHAIN) subunits. (lookformedical.com)