Lysosomal Storage Diseases: Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.Lysosomal Storage Diseases, Nervous System: A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes.alpha-Mannosidosis: An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.Mucopolysaccharidosis VII: Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.Glycogen Storage Disease Type I: An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.Lysosomes: A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured. Such rupture is supposed to be under metabolic (hormonal) control. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)Gaucher Disease: An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.Fucosidosis: An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)Glycogen Storage Disease: A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.Mucopolysaccharidosis I: Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.Glycogen Storage Disease Type II: An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)Aspartylglucosaminuria: A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES.Mucolipidoses: A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)Enzyme Replacement Therapy: Therapeutic replacement or supplementation of defective or missing enzymes to alleviate the effects of enzyme deficiency (e.g., GLUCOSYLCERAMIDASE replacement for GAUCHER DISEASE).Sphingolipidoses: 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.Mucopolysaccharidosis III: Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.Aspartylglucosylaminase: An enzyme that catalyzes the conversion of N(4)-(beta-N-acetyl-D-glucosaminyl)-L-asparagine and water to N-acetyl-beta-D-glucosaminylamine and L-aspartate. It acts only on asparagine-oligosaccharides containing one amino acid, i.e. the ASPARAGINE has free alpha-amino and alpha-carboxyl groups. (From Enzyme Nomenclature, 1992)Leukodystrophy, Metachromatic: An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.Cerebroside-Sulfatase: An enzyme that catalyzes the hydrolysis of cerebroside 3-sulfate (sulfatide) to yield a cerebroside and inorganic sulfate. A marked deficiency of arylsulfatase A, which is considered the heat-labile component of cerebroside sulfatase, has been demonstrated in all forms of metachromatic leukodystrophy (LEUKODYSTROPHY, METACHROMATIC). EC 126.96.36.199.Iduronidase: An enzyme that hydrolyzes iduronosidic linkages in desulfated dermatan. Deficiency of this enzyme produces Hurler's syndrome. EC 188.8.131.52.Sandhoff Disease: An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.Gangliosidosis, GM1: An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)Cholesterol Ester Storage Disease: An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.Gangliosidoses, GM2: A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.Glucosylceramidase: A glycosidase that hydrolyzes a glucosylceramide to yield free ceramide plus glucose. Deficiency of this enzyme leads to abnormally high concentrations of glucosylceramide in the brain in GAUCHER DISEASE. EC 184.108.40.206.Mucopolysaccharidosis VI: Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).alpha-Galactosidase: An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids.Neuronal Ceroid-Lipofuscinoses: A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.Glycogen Storage Disease Type IV: An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.Glycogen Storage Disease Type III: An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.Mucopolysaccharidoses: Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.Fabry Disease: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.alpha-Glucosidases: Enzymes that catalyze the exohydrolysis of 1,4-alpha-glucosidic linkages with release of alpha-glucose. Deficiency of alpha-1,4-glucosidase may cause GLYCOGEN STORAGE DISEASE TYPE II.GlucuronidaseN-Acetylgalactosamine-4-Sulfatase: An arylsulfatase that catalyzes the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate. A deficiency of this enzyme is responsible for the inherited lysosomal disease, Maroteaux-Lamy syndrome (MUCOPOLYSACCHARIDOSIS VI). EC 220.127.116.11.Niemann-Pick Diseases: A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.Mucopolysaccharidosis IV: Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.beta-N-Acetylhexosaminidases: A hexosaminidase specific for non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. It acts on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES. Two specific mammalian isoenzymes of beta-N-acetylhexoaminidase are referred to as HEXOSAMINIDASE A and HEXOSAMINIDASE B. Deficiency of the type A isoenzyme causes TAY-SACHS DISEASE, while deficiency of both A and B isozymes causes SANDHOFF DISEASE. The enzyme has also been used as a tumor marker to distinguish between malignant and benign disease.beta-Mannosidosis: 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. The human disease occurs through autosomal recessive inheritance and manifests itself with variety of symptoms that depend upon the type of gene mutation.Plant Poisoning: Poisoning by the ingestion of plants or its leaves, berries, roots or stalks. The manifestations in both humans and animals vary in severity from mild to life threatening. In animals, especially domestic animals, it is usually the result of ingesting moldy or fermented forage.Tay-Sachs Disease: An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.Hexosaminidase B: A mammalian beta-hexosaminidase isoform that is comprized of hexosaminidase beta subunits. Deficiency of hexosaminidase B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE.Malvaceae: The mallow family of the order Malvales, subclass Dilleniidae, class Magnoliopsida. Members include GOSSYPIUM, okra (ABELMOSCHUS), HIBISCUS, and CACAO. The common names of hollyhock and mallow are used for several genera of Malvaceae.Wolman Disease: The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.Genetic Therapy: Techniques and strategies which include the use of coding sequences and other conventional or radical means to transform or modify cells for the purpose of treating or reversing disease conditions.G(M2) Ganglioside: A glycosphingolipid that accumulates due to a deficiency of hexosaminidase A or B (BETA-N-ACETYLHEXOSAMINIDASES), or GM2 activator protein, resulting in GANGLIOSIDOSES, heredity metabolic disorders that include TAY-SACHS DISEASE and SANDHOFF DISEASE.alpha-Mannosidase: An enzyme that catalyzes the HYDROLYSIS of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. The enzyme plays a role in the processing of newly formed N-glycans and in degradation of mature GLYCOPROTEINS. There are multiple isoforms of alpha-mannosidase, each having its own specific cellular location and pH optimum. Defects in the lysosomal form of the enzyme results in a buildup of mannoside intermediate metabolites and the disease ALPHA-MANNOSIDOSIS.Sialic Acid Storage Disease: Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided.Gangliosidoses: A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.Leukodystrophy, Globoid Cell: An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.beta-Glucosidase: An exocellulase with specificity for a variety of beta-D-glycoside substrates. It catalyzes the hydrolysis of terminal non-reducing residues in beta-D-glucosides with release of GLUCOSE.Serine Proteases: Peptide hydrolases that contain at the active site a SERINE residue involved in catalysis.Chondro-4-Sulfatase: An enzyme from the sulfuric ester hydrolase class that breaks down one of the products of the chondroitin lyase II reaction. EC 18.104.22.168.Dependovirus: A genus of the family PARVOVIRIDAE, subfamily PARVOVIRINAE, which are dependent on a coinfection with helper adenoviruses or herpesviruses for their efficient replication. The type species is Adeno-associated virus 2.Cystinosis: A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.Glycogen Storage Disease Type VII: An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.Psychosine: An intermediate in the biosynthesis of cerebrosides. It is formed by reaction of sphingosine with UDP-galactose and then itself reacts with fatty acid-Coenzyme A to form the cerebroside.Hexosaminidase A: A mammalian beta-hexosaminidase isoform that is a heteromeric protein comprized of both hexosaminidase alpha and hexosaminidase beta subunits. Deficiency of hexosaminidase A due to mutations in the gene encoding the hexosaminidase alpha subunit is a case of TAY-SACHS DISEASE. Deficiency of hexosaminidase A and HEXOSAMINIDASE B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.Mannosephosphates: Phosphoric acid esters of mannose.Glucosylceramides: Cerebrosides which contain as their polar head group a glucose moiety bound in glycosidic linkage to the hydroxyl group of ceramides. Their accumulation in tissue, due to a defect in beta-glucosidase, is the cause of Gaucher's disease.Genetic Vectors: DNA molecules capable of autonomous replication within a host cell and into which other DNA sequences can be inserted and thus amplified. Many are derived from PLASMIDS; BACTERIOPHAGES; or VIRUSES. They are used for transporting foreign genes into recipient cells. Genetic vectors possess a functional replicator site and contain GENETIC MARKERS to facilitate their selective recognition.Multiple Sulfatase Deficiency Disease: An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid.Glycosaminoglycans: Heteropolysaccharides which contain an N-acetylated hexosamine in a characteristic repeating disaccharide unit. The repeating structure of each disaccharide involves alternate 1,4- and 1,3-linkages consisting of either N-acetylglucosamine or N-acetylgalactosamine.Niemann-Pick Disease, Type C: An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of gene (NPC1) encoding a protein that mediate intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.Transient Receptor Potential Channels: A broad group of eukaryotic six-transmembrane cation channels that are classified by sequence homology because their functional involvement with SENSATION is varied. They have only weak voltage sensitivity and ion selectivity. They are named after a DROSOPHILA mutant that displayed transient receptor potentials in response to light. A 25-amino-acid motif containing a TRP box (EWKFAR) just C-terminal to S6 is found in TRPC, TRPV and TRPM subgroups. ANKYRIN repeats are found in TRPC, TRPV & TRPN subgroups. Some are functionally associated with TYROSINE KINASE or TYPE C PHOSPHOLIPASES.Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.Mucopolysaccharidosis II: Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.Liver: A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.Mannosidases: Glycoside hydrolases that catalyze the hydrolysis of alpha or beta linked MANNOSE.Dipeptidyl-Peptidases and Tripeptidyl-Peptidases: A subclass of exopeptidases that includes enzymes which cleave either two or three AMINO ACIDS from the end of a peptide chain.Glycosphingolipids: Lipids containing at least one monosaccharide residue and either a sphingoid or a ceramide (CERAMIDES). They are subdivided into NEUTRAL GLYCOSPHINGOLIPIDS comprising monoglycosyl- and oligoglycosylsphingoids and monoglycosyl- and oligoglycosylceramides; and ACIDIC GLYCOSPHINGOLIPIDS which comprises sialosylglycosylsphingolipids (GANGLIOSIDES); SULFOGLYCOSPHINGOLIPIDS (formerly known as sulfatides), glycuronoglycosphingolipids, and phospho- and phosphonoglycosphingolipids. (From IUPAC's webpage)Brain: The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.Glucose-6-Phosphatase: An enzyme that catalyzes the conversion of D-glucose 6-phosphate and water to D-glucose and orthophosphate. EC 22.214.171.124.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Mice, Knockout: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.TRPM Cation Channels: A subgroup of TRP cation channels named after melastatin protein. They have the TRP domain but lack ANKYRIN repeats. Enzyme domains in the C-terminus leads to them being called chanzymes.Central Nervous System: The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges.Autophagy: The segregation and degradation of damaged or unwanted cytoplasmic constituents by autophagic vacuoles (cytolysosomes) composed of LYSOSOMES containing cellular components in the process of digestion; it plays an important role in BIOLOGICAL METAMORPHOSIS of amphibians, in the removal of bone by osteoclasts, and in the degradation of normal cell components in nutritional deficiency states.Sphingomyelin Phosphodiesterase: An enzyme that catalyzes the hydrolysis of sphingomyelin to ceramide (N-acylsphingosine) plus choline phosphate. A defect in this enzyme leads to NIEMANN-PICK DISEASE. EC 126.96.36.199.Acetylglucosaminidase: A beta-N-Acetylhexosaminidase that catalyzes the hydrolysis of terminal, non-reducing 2-acetamido-2-deoxy-beta-glucose residues in chitobiose and higher analogs as well as in glycoproteins. Has been used widely in structural studies on bacterial cell walls and in the study of diseases such as MUCOLIPIDOSIS and various inflammatory disorders of muscle and connective tissue.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Glycogen Storage Disease Type V: Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.Cat Diseases: Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as CHEETAHS; LIONS; tigers, cougars, panthers, leopards, and other Felidae for which the heading CARNIVORA is used.Mice, Mutant Strains: Mice bearing mutant genes which are phenotypically expressed in the animals.Lipid Metabolism, Inborn Errors: Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.Glycogen Debranching Enzyme System: 1,4-alpha-D-Glucan-1,4-alpha-D-glucan 4-alpha-D-glucosyltransferase/dextrin 6 alpha-D-glucanohydrolase. An enzyme system having both 4-alpha-glucanotransferase (EC 188.8.131.52) and amylo-1,6-glucosidase (EC 184.108.40.206) activities. As a transferase it transfers a segment of a 1,4-alpha-D-glucan to a new 4-position in an acceptor, which may be glucose or another 1,4-alpha-D-glucan. As a glucosidase it catalyzes the endohydrolysis of 1,6-alpha-D-glucoside linkages at points of branching in chains of 1,4-linked alpha-D-glucose residues. Amylo-1,6-glucosidase activity is deficient in glycogen storage disease type III.Carbohydrate Metabolism, Inborn ErrorsHydrolases: Any member of the class of enzymes that catalyze the cleavage of the substrate and the addition of water to the resulting molecules, e.g., ESTERASES, glycosidases (GLYCOSIDE HYDROLASES), lipases, NUCLEOTIDASES, peptidases (PEPTIDE HYDROLASES), and phosphatases (PHOSPHORIC MONOESTER HYDROLASES). EC 3.Glycogen Storage Disease Type VI: A hepatic GLYCOGEN STORAGE DISEASE in which there is an apparent deficiency of hepatic phosphorylase (GLYCOGEN PHOSPHORYLASE, LIVER FORM) activity.Drug Storage: The process of keeping pharmaceutical products in an appropriate location.1-Deoxynojirimycin: An alpha-glucosidase inhibitor with antiviral action. Derivatives of deoxynojirimycin may have anti-HIV activity.Iduronate Sulfatase: An enzyme that specifically cleaves the ester sulfate of iduronic acid. Its deficiency has been demonstrated in Hunter's syndrome, which is characterized by an excess of dermatan sulfate and heparan sulfate. EC 220.127.116.11.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Lipidoses: Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.Imino Sugars: Sugars in which the OXYGEN is replaced by a NITROGEN atom. This substitution prevents normal METABOLISM resulting in inhibition of GLYCOSIDASES and GLYCOSYLTRANSFERASES.beta-Mannosidase: An enzyme that catalyzes the hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides. The enzyme plays a role in the lysosomal degradation of the N-glycosylprotein glycans. Defects in the lysosomal form of the enzyme in humans result in a buildup of mannoside intermediate metabolites and the disease BETA-MANNOSIDOSIS.Gene Transfer Techniques: The introduction of functional (usually cloned) GENES into cells. A variety of techniques and naturally occurring processes are used for the gene transfer such as cell hybridization, LIPOSOMES or microcell-mediated gene transfer, ELECTROPORATION, chromosome-mediated gene transfer, TRANSFECTION, and GENETIC TRANSDUCTION. Gene transfer may result in genetically transformed cells and individual organisms.beta-Galactosidase: A group of enzymes that catalyzes the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-galactosides. Deficiency of beta-Galactosidase A1 may cause GANGLIOSIDOSIS, GM1.Hepatomegaly: Enlargement of the liver.Cats: The domestic cat, Felis catus, of the carnivore family FELIDAE, comprising over 30 different breeds. The domestic cat is descended primarily from the wild cat of Africa and extreme southwestern Asia. Though probably present in towns in Palestine as long ago as 7000 years, actual domestication occurred in Egypt about 4000 years ago. (From Walker's Mammals of the World, 6th ed, p801)Microscopy, Electron: Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.Mice, Inbred C57BLGlycogenOligosaccharides: Carbohydrates consisting of between two (DISACCHARIDES) and ten MONOSACCHARIDES connected by either an alpha- or beta-glycosidic link. They are found throughout nature in both the free and bound form.Cells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.Spleen: An encapsulated lymphatic organ through which venous blood filters.alpha-N-Acetylgalactosaminidase: A hexosaminidase with specificity for terminal non-reducing N-acetyl-D-galactosamine residues in N-acetyl-alpha-D-galactosaminides.Dogs: The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065)Cathepsin A: A carboxypeptidase that catalyzes the release of a C-terminal amino acid with a broad specificity. It also plays a role in the LYSOSOMES by protecting BETA-GALACTOSIDASE and NEURAMINIDASE from degradation. It was formerly classified as EC 18.104.22.168 and EC 22.214.171.124.Glycogen Storage Disease Type VIII: An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.Glucan 1,4-alpha-Glucosidase: An enzyme that catalyzes the hydrolysis of terminal 1,4-linked alpha-D-glucose residues successively from non-reducing ends of polysaccharide chains with the release of beta-glucose. It is also able to hydrolyze 1,6-alpha-glucosidic bonds when the next bond in sequence is 1,4.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Niemann-Pick Disease, Type A: The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.Recombinant Proteins: Proteins prepared by recombinant DNA technology.Food Storage: Keeping food for later consumption.Protein Transport: The process of moving proteins from one cellular compartment (including extracellular) to another by various sorting and transport mechanisms such as gated transport, protein translocation, and vesicular transport.SulfatasesSaposins: A group of four homologous sphingolipid activator proteins that are formed from proteolytic cleavage of a common protein precursor molecule referred to as prosaposin.Proteins: Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.Neurons: The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.Antiporters: Membrane transporters that co-transport two or more dissimilar molecules in the opposite direction across a membrane. Usually the transport of one ion or molecule is against its electrochemical gradient and is "powered" by the movement of another ion or molecule with its electrochemical gradient.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Bone Marrow Transplantation: The transference of BONE MARROW from one human or animal to another for a variety of purposes including HEMATOPOIETIC STEM CELL TRANSPLANTATION or MESENCHYMAL STEM CELL TRANSPLANTATION.Galactosylceramidase: An enzyme that hydrolyzes galactose from ceramide monohexosides. Deficiency of this enzyme may cause globoid cell leukodystrophy (LEUKODYSTROPHY, GLOBOID CELL). EC 126.96.36.199.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Chondroitinsulfatases: A group of enzymes that catalyze the hydrolysis of various sulfate bonds of chondroitin sulfate. EC 3.1.6.-.Adenoma, Liver Cell: A benign epithelial tumor of the LIVER.Amylopectin: A highly branched glucan in starch.Sphingolipid Activator Proteins: A family of glycoprotein cofactors that are required for the efficient catabolization of SPHINGOLIPIDS by specific acid hydrolases such as GLUCOSYLCERAMIDASE; GALACTOCEREBROSIDASE; BETA-N-ACETYLHEXOSAMINIDASE; and CEREBROSIDE-SULFATASE.
Substrate reduction therapy
Examples of lysosomal storage disorders include Gaucher's disease, Tay-Sachs disease, and Sandhoff disease. In a metabolic or ... especially glycogen storage diseases and lysosomal storage disorders. In a storage disorder, a critical failure in a metabolic ... 1997). "Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin". Science. American Academy for ... Tay-Sachs disease. The disease occurs when harmful quantities of a fatty acid derivative called a ganglioside accumulate in the ...
Mutations in the glucocerebrosidase gene cause Gaucher's disease, a lysosomal storage disease characterized by an accumulation ... Grabowski GA (2012). "Gaucher disease and other storage disorders". Hematology / the Education Program of the American Society ... GeneReviews/NCBI/UW/NIH entry on Gaucher disease Glucocerebrosidase at the US National Library of Medicine Medical Subject ... Deegan PB, Cox TM (2012). "Imiglucerase in the treatment of Gaucher disease: a history and perspective". Drug Design, ...
Inborn error of metabolism
Zellweger syndrome Lysosomal storage disorders E.g., Gaucher's disease E.g., Niemann-Pick disease Because of the enormous ... or lysosomal storage diseases. In recent decades, hundreds of new inherited disorders of metabolism have been discovered and ... glycogen storage disease, G6PD deficiency Disorders of amino acid metabolism E.g., phenylketonuria, maple syrup urine disease, ... Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases.[ ...
Richard Bruce Silverman
"Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants". AJP: Cell ... "Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and ... Miglustat, a drug for the treatment of Gaucher disease, with a similar structure 1-Deoxynojirimycin, a stereoisomer of ... Fabry disease is a genetic disorder caused by various mutations of the enzyme α-GalA, which is responsible for breaking down ...
... also found to improve cellular function in some disease of lysosomal origin such as Parkinson's or lysosomal storage disease. ... The most common LSD is Gaucher's disease, which is due to deficiency of the enzyme glucocerebrosidase. Consequently, the enzyme ... which are collectively known as lysosomal storage diseases. These diseases result from an accumulation of specific substrates, ... Platt FM, Boland B, van der Spoel AC (November 2012). "The cell biology of disease: lysosomal storage disorders: the cellular ...
Enzyme replacement therapy
ERT is currently available for some lysosomal storage diseases: Gaucher disease, Fabry disease, MPS I, MPS II (Hunter syndrome ... Lysosomal storage diseases are fatal group of diseases and a main application of ERT. Lysosomes are cellular organelles that ... ERT is not a cure for lysosomal storage diseases, and it requires lifelong IV infusions of the therapeutic enzyme. This ... As of 2012, there are 50 lysosomal storage diseases, and more are still being discovered. These disorders arise because of ...
In the lysosomal storage disorders Gaucher's and Tay-Sachs disease, endoplasmic reticulum-associated degradation (ERAD) ... WO patent 2012094600, Segatori, Laura & Wang, Fan, "Methods for treating lysosomal storage diseases using L-type Ca2+ channel ... The method of claim 9 wherein the subject has Gaucher's disease or Tay-Sachs disease #11 : The method of claim 9 wherein the ... Kifunensine has shown potential for treatment of sarcoglycanopathies and lysosomal storage disorders. Kifunensine was first ...
... and is similar to such lysosomal storage diseases in humans as Tay Sachs disease and Gaucher disease. The Schipperke is also ... The University of Pennsylvania School of Veterinary Medicine has developed a test for the disease and began accepting samples ... The disease affects balance, negotiation of obstacles (such as stairs), ... "New DNA-based Test for Inherited Diseases in Schipperkes." The Bellwether 56:Sept. 2003, pp 7, 9. Schipperke health survey. ...
Examples include Gaucher disease, Fabry disease, Mucopolysaccharidoses and Glycogen storage disease type II. Such treatments ... Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, metabolic acidosis ... Enzyme replacement therapy Certain lysosomal storage diseases are treated with infusions of a recombinant enzyme (produced in a ... or lysosomal storage diseases. Referral for counseling in a prenatal genetics clinic to discuss risks to the pregnancy ( ...
This enzyme deficiency is the cause of the lysosomal storage disease called mucopolysaccharidosis type VII. Congenital ... This is termed Hb Barts (consists of y-4 tetramers). Uncommonly, Niemann-Pick disease Type C (NPC) and Gaucher disease type 2 ... Due to preventative methods developed in the 1970s, the incidence of Rh disease has markedly declined. Rh disease can be ... However, a small percentage of pregnant mothers are still susceptible to Rh disease even after receiving anti-D IgG (Rho(D) ...
... focuses on six areas of medicine relating to lysosomal storage diseases, renal disease, orthopedics, transplant and ... In 1984, Robin Berman, MD, who volunteered at the NIH, had a three-year-old son Brian, who had Gaucher's disease. He was ... The first orphan-drug for Genzyme that FDA approved was Ceredase, a drug for treating Gaucher disease. Ceredase was eventually ... The FDA found these materials in Cerezyme, Genzyme's treatment for Gaucher disease, a rare genetic disorder that can lead to ...
Prostatic acid phosphatase
... diseases of blood cells, such as sickle-cell disease or multiple myeloma or lysosomal storage diseases, such as Gaucher's ... Diseases of the bone, such as Paget's disease or hyperparathyroidism, ... It may be found in increased amounts in men who have prostate cancer or other diseases. The highest levels of acid phosphatase ... 1989). "Human prostatic acid phosphatase: cDNA cloning, gene mapping and protein sequence homology with lysosomal acid ...
William S. Sly
... which provided the rationale for enzyme replacement therapy in Gaucher's disease and other lysosomal storage diseases. These ... "MPS 7 for Patients , Lysosomal Storage Disorder , Metabolic , Rare Disease , Ultragenyx". www.ultragenyx.com. Retrieved 2017-01 ... Sly interviewed by Rare Disease Report National Organization for Rare Diseases: MPS VII MPS VII Page on the MPS Society Website ... With collaborators, he identified other human diseases attributed to mutations in the genes encoding CA IV, CA VA, and CA XII. ...
A pilot screening program for four lysosomal storage diseases (Gaucher disease, Pompe disease, Fabry disease and Niemann-Pick ... Lysosomal storage disorders are not included in newborn screening programs with high frequency. As a group, they are ... Black's disease was treated with diet and vitamins; Wyvill's disease went undetected for over six months, and during that time ... Many of the new diseases being tested for are rare and have no known treatment, while some of the diseases need not be treated ...
Glycoside hydrolase family 30
List of conditions treated with hematopoietic stem cell transplantation
Environmentally-induced diseases Radiation poisoning Viral diseases HTLV HIV Lysosomal storage disorders Lipidoses (disorders ... Niemann-Pick disease Gaucher disease Leukodystrophies Adrenoleukodystrophy Metachromatic leukodystrophy Krabbe disease (globoid ... Hematologic diseases Hemoglobinopathies Sickle cell disease β thalassemia major (Cooley's anemia) Anemias Aplastic anemia ... I-cell disease) Fucosidosis Aspartylglucosaminuria Alpha-mannosidosis Other Wolman disease (acid lipase deficiency) ...
Lipid storage disorder
Members of this group include Niemann-Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay-Sachs disease, ... Disorders that store this intracellular material are part of the lysosomal storage diseases family of disorders. Many lipid ... Schindler disease and Wolman disease. Lipid storage diseases can be inherited two ways: Autosomal recessive inheritance occurs ... Xanthomatosis Niemann-Pick disease "Lipid Storage Diseases Fact Sheet". National Institute of Neurological Disorders and Stroke ...
Unlike other lysosomal storage diseases (e.g., Gaucher disease, Niemann-Pick disease, and Sandhoff disease), hepatosplenomegaly ... Adult/Late-Onset Tay-Sachs disease. A rare form of this disease, known as Adult-Onset or Late-Onset Tay-Sachs disease, usually ... Tay-Sachs disease NINDS Tay-Sachs Disease Information Page Tay-Sachs disease at NLM Genetics Home Reference Tay-Sachs on NCBI. ... Deficiency in any one of these proteins leads to ganglioside storage, primarily in the lysosomes of neurons. Tay-Sachs disease ...
... is the most common of the lysosomal storage diseases. It is a form of sphingolipidosis (a subgroup of ... Gaucher Disease at National Gaucher Foundation. Retrieved June 2012 "Gaucher Disease Genetics , About Gaucher Disease , ... "Gaucher Disease". www.symptoma.com. Retrieved 2015-12-07. Grabowski GA (2012). "Gaucher disease and other storage disorders". ... Type II Gaucher's disease shows no particular preference for any ethnic group. Type III Gaucher's disease is especially common ...
Niemann-Pick disease, type C
... in contrast to the progression of other lysosomal storage diseases such as Niemann-Pick disease, Types A and B or Gaucher ... October 2008). "Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium". ... Niemann-Pick type C is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Niemann-Pick type C ... "Thomas Jefferson University - Lysosomal Diseases Testing Laboratory". Archived from the original on August 3, 2010. Retrieved ...
Lysosomal storage disease
Tay-Sachs disease was the first of these disorders to be described, in 1881, followed by Gaucher disease in 1882. In the late ... storage diseases Type II Pompe disease Type IIb Danon disease Other Cholesteryl ester storage disease Lysosomal disease The ... glycogen storage disease type II (Pompe disease) is also a defect in lysosomal metabolism, although it is otherwise classified ... "Epidemiology of lysosomal storage diseases: an overview". eMedicine Specialties > Neurology > Pediatric Neurology > Lysosomal ...
Molecular chaperone therapy
... lysosomal storage disease is inclusion cell disease.. Metachromatic leukodystrophy is another lysosomal storage disease ... There is no direct medical treatment to cure LSDs. The most common LSD is Gaucher's disease, which is due to deficiency of ... also found to improve cellular function in some disease of lysosomal origin such as Parkinson's or lysosomal storage disease.[ ... which are collectively known as lysosomal storage diseases. These diseases result from an accumulation of specific substrates, ...
... and histoplasmosis or it can be the sign of a serious and life-threatening lysosomal storage disease. Systemic venous ... Niemann-Pick disease Gaucher's disease Hurler's syndrome Chronic liver ... National Niemann Pick Disease Foundation Hide and Seek Foundation For Lysosomal Disease Research. ... disease Leukaemia Lymphoma Pernicious anaemia Sickle cell anaemia Thalassaemia Myelofibrosis Metabolic disease: ...
List of MeSH codes (C18)
... cholesterol ester storage disease MeSH C18.452.648.595.554 --- lysosomal storage diseases, nervous system MeSH C18.452.648.595. ... tay-sachs disease, ab variant MeSH C18.452.648.595.803.441 --- gaucher disease MeSH C18.452.648.595.803.585 --- leukodystrophy ... leigh disease MeSH C18.4188.8.131.525 --- lesch-nyhan syndrome MeSH C18.4184.108.40.2065 --- lysosomal storage diseases, ... leigh disease MeSH C18.452.648.151.425 --- lesch-nyhan syndrome MeSH C18.452.648.151.435 --- lysosomal storage diseases, ...
List of MeSH codes (C16)
... cholesterol ester storage disease MeSH C16.320.565.580.554 --- lysosomal storage diseases, nervous system MeSH C16.320.565.580. ... tay-sachs disease, ab variant MeSH C16.320.565.580.803.441 --- gaucher disease MeSH C16.320.565.580.803.585 --- leukodystrophy ... leigh disease MeSH C16.320.565.150.425 --- lesch-nyhan syndrome MeSH C16.320.565.150.435 --- lysosomal storage diseases, ... glycogen storage disease type i MeSH C16.320.565.202.449.500 --- glycogen storage disease type ii MeSH C16.320.565.202.449.510 ...
List of MeSH codes (C10)
... leigh disease MeSH C10.228.140.163.100.425 --- lesch-nyhan syndrome MeSH C10.228.140.163.100.435 --- lysosomal storage diseases ... sandhoff disease MeSH C10.228.140.163.100.435.825.400 --- gaucher disease MeSH C10.228.140.163.100.435.825.590 --- ... lewy body disease MeSH C10.228.662.600.400 --- parkinson disease MeSH C10.228.662.600.700 --- parkinson disease, secondary MeSH ... lewy body disease MeSH C10.228.140.079.862.500 --- parkinson disease MeSH C10.228.140.079.862.800 --- parkinson disease, ...
... in lysosomal storage and other diseases". Proc. Natl. Acad. Sci. U.S.A. 87 (9): 3493-7. doi:10.1073/pnas.87.9.3493. PMC 53927 ... Mutations in this gene have been associated with Gaucher disease, Tay-Sachs disease, and metachromatic leukodystrophy. Saposin ... O'Brien JS, Kishimoto Y (March 1991). "Saposin proteins: structure, function, and role in human lysosomal storage disorders". ... variant Gaucher disease and variant metachromatic leukodystrophy)". Morimoto S, Yamamoto Y, O'Brien JS, Kishimoto Y (May 1990 ...
... , Pioneer Scientist in Gaucher Disease, Dies at 92". Gaucher Disease News. 17 June 2016. Brady RO, Gurin S. The ... These were the first-ever enzyme replacement therapy (ERT) treatments for lysosomal diseases, and directly led to great ... Infusion of a-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci ... Brady and his colleagues identified the enzymatic defects in Gaucher's disease, Niemann-Pick disease, Fabry disease and the ...
Morquio syndrome C
Batten Disease; Pelizaeus-Merzbacher Disease; Leukodystrophy; Lysosomal Storage Diseases; Purine Nucleoside Phosphorylase ... Sandhoff Disease; Niemann-Pick Diseases; MPS IV; Gaucher Disease; GAN; GM1 Gangliosidoses; Morquio Disease; S- ... Condition Summary: MLD; Krabbe Disease; ALD; MPS I; MPS II; MPS III; Vanishing White Matter Disease; GM3 Gangliosidosis; PKAN; ... Review articles summarize what is currently known about a disease. They discuss research previously published by others. The ...
Biomarker for Gaucher Disease: BioGaucher (BioGaucher) | Clinical Research Trial Listing ( Gaucher Disease | Hepatomegaly | ...
Lysosomal Storage Disease , Biomarker for Gaucher Disease: BioGaucher (BioGaucher) ... Clinical trial for Gaucher Disease , Hepatomegaly , Splenomegaly , Sphingolipidosis , ... Gaucher disease (GD) is an autosomal recessive hereditary lysosomal storage disorder. Occurrence of the disease is due to a ... Biomarker for Gaucher Disease: BioGaucher (BioGaucher) Brief description of study. Development of a new mass spectrometry-based ...
Frontiers | Neuroinflammatory paradigms in lysosomal storage diseases | Neuroscience
... of all inherited metabolic diseases. LSDs are caused by mutations in various enzymes/proteins that disrupt lysosomal function, ... of all inherited metabolic diseases. LSDs are caused by mutations in various enzymes/proteins that disrupt lysosomal function, ... LSDs are pathologically typified by lysosomal inclusions composed of a heterogeneous mixture of various proteins and lipids ... LSDs are pathologically typified by lysosomal inclusions composed of a heterogeneous mixture of various proteins and lipids ...
mTOR hyperactivity mediates lysosomal dysfunction in Gaucher's disease iPSC-neuronal cells | Disease Models & Mechanisms
Gauchers disease (GD) is the most common lysosomal storage disorder (LSD). It is caused by bi-allelic mutations in the GBA1 ( ... Bi-allelic GBA1 mutations cause Gauchers disease (GD), the most common lysosomal storage disorder. Neuronopathic ... 2017). The emerging role of autophagic-lysosomal dysfunction in Gaucher disease and Parkinsons disease. Neural Regen. Res. 12 ... mTOR hyperactivity mediates lysosomal dysfunction in Gauchers disease iPSC-neuronal cells Message Subject (Your Name) has sent ...
Gaucher disease: MedlinePlus Medical Encyclopedia
Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase (GBA). ... Krasnewich DM, Sidransky E. Lysosomal storage diseases. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. ... How well a person does depends on their subtype of the disease. The infantile form of Gaucher disease (Type 2) may lead to ... There are three main subtypes of Gaucher disease:. *Type 1 is most common. It involves bone disease, anemia, an enlarged spleen ...
Lysosomal Storage Disease: Overview, Classification of Lysosomal Storage Diseases, Glycogen Storage Disease Type II
Gaucher disease types I, II, and III (beta-glucosidase deficiency) (Also see the Medscape Reference article Gaucher Disease.) ... and Lysosomal Storage Disease What to Read Next on Medscape. Related Conditions and Diseases. * Lysosomal Storage Disease ... Classification of Lysosomal Storage Diseases. More than 50 lysosomal storage diseases have been described. They are classified ... yet non-neuronopathic forms of lysosomal storage disease exist. Lysosomal storage diseases may result in a severe ...
Expanded Access Trial of Plant Expressed Recombinant Glucocerebrosidase (prGCD) in Patients With Gaucher Disease - Full Text...
Gaucher Disease. Sphingolipidoses. Lysosomal Storage Diseases, Nervous System. Brain Diseases, Metabolic, Inborn. Brain ... Genetic Diseases, Inborn. Lipidoses. Lipid Metabolism, Inborn Errors. Lysosomal Storage Diseases. Metabolic Diseases. Lipid ... Gaucher disease, the most prevalent lysosomal storage disorder, is caused by mutations in the human glucocerebrosidase gene ( ... Brain Diseases. Central Nervous System Diseases. Nervous System Diseases. Metabolism, Inborn Errors. ...
A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease - Full Text View -...
Gaucher Disease. Sphingolipidoses. Lysosomal Storage Diseases, Nervous System. Brain Diseases, Metabolic, Inborn. Brain ... Genetic Diseases, Inborn. Lipidoses. Lipid Metabolism, Inborn Errors. Lysosomal Storage Diseases. Metabolic Diseases. Lipid ... Brain Diseases. Central Nervous System Diseases. Nervous System Diseases. Metabolism, Inborn Errors. ... Gaucher Disease Drug: Taliglucerase alfa Phase 3 Access to an investigational treatment associated with this study is no longer ...
Ambroxol Therapy for Patients With Type 1 Gaucher Disease and Suboptimal Response to Enzyme Replacement Therapy - Full Text...
Gaucher Disease. Sphingolipidoses. Lysosomal Storage Diseases, Nervous System. Brain Diseases, Metabolic, Inborn. Brain ... Gaucher Disease Genetic and Rare Diseases Information Center resources: Gaucher Disease Gaucher Disease Type 1 Sphingolipidosis ... Genetic Diseases, Inborn. Lipidoses. Lipid Metabolism, Inborn Errors. Lysosomal Storage Diseases. Metabolic Diseases. Lipid ... Brain Diseases. Central Nervous System Diseases. Nervous System Diseases. Metabolism, Inborn Errors. ...
Pediatric Lysosomal Storage Disorders | Children's National
... provide expert treatment for children with lysosomal storage disease, a genetic condition. ... Pompe disease. Symptoms of Lysosomal Storage Diseases. Symptoms vary depending on the type of lysosomal storage disease your ... Types of Lysosomal Storage Diseases?. There are more than 50 types of lysosomal storage diseases. The types that occur most ... How Are Lysosomal Storage Diseases Diagnosed? Physicians can detect lysosomal storage diseases either during pregnancy or in ...
Gaucher Disease Follow-up: Further Outpatient Care, Further Inpatient Care, Deterrence/Prevention
The disorder results from the deficiency of a specific lysosomal hydrolase, glucocerebrosidase (also termed acid beta- ... Gaucher disease is a lipid storage disease characterized by the deposition of glucocerebroside in cells of the macrophage- ... and Gaucher Disease What to Read Next on Medscape. Related Conditions and Diseases. * Lysosomal Storage Disease ... Gaucher disease is inherited as an autosomal recessive trait. Although it is panethnic, Gaucher disease is more common in ...
Substrate reduction therapy - Wikipedia
Examples of lysosomal storage disorders include Gauchers disease, Tay-Sachs disease, and Sandhoff disease. In a metabolic or ... especially glycogen storage diseases and lysosomal storage disorders. In a storage disorder, a critical failure in a metabolic ... 1997). "Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin". Science. American Academy for ... Tay-Sachs disease. The disease occurs when harmful quantities of a fatty acid derivative called a ganglioside accumulate in the ...
Emory Lysosomal and Peroxisomal Storage Disease Center | Emory School of Medicine
When Emorys Lysosomal and Peroxisomal Storage Disease Center was founded in 1993, Type I Gaucher disease was the first and ... About Lysosomal and Peroxisomal Storage Diseases. The lysosomal storage diseases (LSDs) are a group of conditions in which ... Emory Lysosomal and Peroxisomal Storage Disease Center The Emory Lysosomal and Peroxisomal Storage Disease Center is devoted to ... To schedule an appointment or speak with a member of our lysosomal storage disease team, call 404-778-0834 or 800-200-1524. ...
Metab, Misc + CDB Flashcards by Carla Marie Lee | Brainscape
Lysosomal storage disease; results in accumulation of GM2ganglioside in brain; normal until 3-6 months old; cherry red spot on ... Gaucher cells: Histiocytes in bone marrow, liver, and spleen with crinkled/crumpled paper cytoplasm ... Lysosomal storage disease; normal at birth, diagnosis at 1 year; nodules (granulomas containing ceramide) on joints, ... Lysosomal storage disease; accumulation of sphingomyelin and cholesterol in reticuloendothelial and parenchymal cells; 50% ...
FA - Key Associations Flashcards by Jullet Han | Brainscape
Murine models of acute neuronopathic Gaucher disease | PNAS
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the glucosidase, beta, acid ( ... Gaucher disease (GD) is the most prevalent lysosomal storage disorder. Inherited deficiency of glucosylceramidase (GCase) ... 2007) in Gaucher Disease, eds Futerman A , Zimran A (Taylor & Francis, Boca Raton, FL), pp 225-248.. ... Murine models of acute neuronopathic Gaucher disease. Ida Berglin Enquist, Christophe Lo Bianco, Andreas Ooka, Eva Nilsson, Jan ...
Enzyme Replacement Therapy for Lysosomal Storage Disorders | Effective Health Care Program
"Gaucher Disease"[Mesh] OR "gaucher disease" OR "gauchers disease". AND. (("alglucerase" [Supplementary Concept]) OR " ... Gaucher disease type I is the most common lysosomal storage disease. The onset of symptoms is variable, from early childhood to ... GSD II glycogen storage disease type II (Pompe disease). IMD inherited metabolic disorders. LSD lysosomal storage disorders. ... "Glycogen Storage Disease Type II"[Mesh] OR ("glycogen storage disease" AND ("type II" OR "type 2")) OR "pompe disease" OR " ...
Glucocerebrosidase - Wikipedia
Mutations in the glucocerebrosidase gene cause Gauchers disease, a lysosomal storage disease characterized by an accumulation ... Grabowski GA (2012). "Gaucher disease and other storage disorders". Hematology / the Education Program of the American Society ... GeneReviews/NCBI/UW/NIH entry on Gaucher disease Glucocerebrosidase at the US National Library of Medicine Medical Subject ... Deegan PB, Cox TM (2012). "Imiglucerase in the treatment of Gaucher disease: a history and perspective". Drug Design, ...
Degenerative Joint Disease of the Shoulder, Shoulder DJD, Glenohumeral Arthritis, Glenohumeral Osteoarthritis, Shoulder ... Lysosomal Storage Disease (e.g. Gauchers Disease). *Sickle Cell Anemia. *Secondary Shoulder Osteoarthritis due to Inflammation ... Degenerative joint disease of shoulder joint, DJD of scapulohumeral joint, Degenerative joint disease of shoulder region, OA - ... Degenerative joint disease of glenohumeral joint, Degenerative joint disease of shoulder region (disorder), Osteoarthritis of ...
Gaucher Disease News, Research
Gaucher disease is the most common condition within a family of rare diseases known as the lysosomal storage diseases. The ... spleen size and hemoglobin level in adults with Gaucher disease type 1 Among previously untreated adults with Gaucher disease ... in Nature blocking a molecule that drives inflammation and organ damage in Gaucher and maybe other lysosomal storage diseases ... A new article suggests that an enzyme deficiency seen in the lysosomal storage disorder Krabbes disease may point to new ...
US20110142818A1 - Combination enzyme replacement and small molecule therapy for treatment of lysosomal storage diseases ...
... and small molecule therapy for the treatment of lysosomal storage diseases. ... Gauchers disease, first described by Phillipe C. E. Gaucher in 1882, is the oldest and most common lysosomal storage disease ... the lysosomal storage disease is attributable at least in part to a stop codon mutation in a gene encoding a lysosomal storage ... Treatment of glycogen storage disease type II Beck 2007. New therapeutic options for lysosomal storage disorders: enzyme ...
Lysosomal Storage Diseases: Pathobiology and Therapeutic Consideration - Nova Science Publishers
Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages. Aging Cell. doi: 10.1111/ acel ... BK Channels alleviate lysosomal storage diseases by providing positive feedback regulation of lysosomal Ca2+ release. Dev Cell ... Lysosomal storage diseases in non-immune hydrops fetalis pregnancies. Clin Chim Acta. 371(1-2):176-82..  Walkley SU. 2003. ... Enzyme replacement therapies and immunogenicity in Lysosomal storage diseases: Is there a pattern? Clin Ther.  Stenger EO, ...
Linking Gaucher and Parkinson's Diseases | DNA Science Blog
Gaucher disease is the most common lysosomal storage disease. Lysosomes are debris centers in cells, where enzymes dismantle ... A STORAGE DISEASE. In Gaucher disease, a deficient enzyme (glucocerebrosidase) causes build-up of glucocerebroside, which ... But this rare disease actually impacts a much more common one: being a carrier for Gaucher disease is a risk factor for ... Leannas parents and sister are carriers of Gaucher disease, and she has other relatives who have Parkinsons disease. The ...
Gaucher's disease Market Insights, Epidemiology and Market Forecast - 2023 United States | Medgadget
Summary The study of Gauchers disease-Market Insights, Epidemiology and Market Forecast-2023-United States is very important ... Gaucher Disease is the second most common lysosomal storage disorder. These fatty deposits are of an enzyme glucocerebrosidase ... Total Market Size of Gauchers Disease in 2015. Total Market Size of Gauchers Disease in 2023. Gaucher Disease. Overview. ... Types of Gaucher Disease. Pathophysiology. Inheritance and Genetics related to Gauchers Disease. Mutations. Diagnosis. ...
Frontiers | The Underexploited Role of Non-Coding RNAs in Lysosomal Storage Diseases | Endocrinology
Lysosomal storage diseases (LSD) are a group of rare disorders caused by mutations of genes encoding specific hydrolases or ... Lysosomal storage diseases (LSD) are a group of rare disorders caused by mutations of genes encoding specific hydrolases or ... The alteration of ncRNA levels is well established in several human diseases such as cancer and auto immune disorders; however ... The alteration of ncRNA levels is well established in several human diseases such as cancer and auto immune disorders; however ...
Blocking Cell Death Molecule Calms Gaucher's Disease in Mice | ALZFORUM
Lysosomal storage disorders and Parkinsons disease: Gaucher disease and beyond. Mov Disord. 2011 Aug 1;26(9):1593-604. Epub ... This lysosomal storage disorder is relevant to the understanding of Parkinsons disease and dementia with Lewy bodies, as well. ... Futerman and colleagues next explored RIPK3s part in Gauchers disease pathogenesis by pharmacologically inducing the disease ... Lysosomal storage disorders are characterized by the buildup of lipids in lysosomes, the cells trash processors. People with ...
Charrow, Joel M., MD | Lurie Children's
Clinical Interests: Skeletal dysplasia, birth defects, dwarfism, Gaucher, Fabry and Pompe disease (lysosomal storage disorders ... Research Interests: Tay-Sachs disease; natural history of genetic disorders; neurofibromatosis-1; Gaucher disease; lysosomal ... Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment J Inherit Metab Dis36 (3): ... Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naive to enzyme replacement therapy or ...
Metabolic Disorder Therapeutics Market Worth $88.93 Billion by 2025: Grand View Research, Inc. | P&T Community
Lysosomal Storage Diseases *Gauchers Disease *Metachromatic Leukodystrophy *Hurler - Scheie *Sanfilipo A *Others ... Grand View Research has segmented the global metabolic disorder therapeutics market on the basis of disease, therapy type, ... Metabolic Disorder Therapeutics Disease Outlook (Revenue, USD Billion, 2014 - 2025) * ... market size was valued at USD 5.0 billion in 2015 owing to the increasing prevalence and incidence rates of this disease and ...
Enfermedad de Gaucher en Latinoamérica: Un informe del Registro Internacional y del Grupo Latinoamericano para la Enfermedad de...
Keywords : Gaucher disease; Latin America; Lysosomal storage disease. · abstract in Spanish · text in Spanish · Spanish ( pdf ... Gaucher disease -due to its low frequency- is considered an orphan disease. In 1991 the International Gaucher Registry was ... DRELICHMAN, Guillermo et al. Gaucher disease in Latin America: A report from the Gaucher Disease International Registry and the ... In 2008 the Latin American Group for Gaucher Disease was initiated. Its main objectives are to promote regional consensus, to ...
Gaucher's Disease Diagnosis
Gauchers disease is a genetically inherited disorder that causes a deficiency in the enzyme glucocerebrosidase. This enzyme is ... Gauchers disease is one of the most common forms of lysosomal storage disease. ... Gauchers disease may also be suspected if cytology studies show the cytoplasm resembles the appearance of crinkled paper and ... Gauchers disease is a genetically inherited disorder that causes a deficiency in the enzyme glucocerebrosidase. This enzyme is ...
Xconomy: It Takes Guts: Blue Turtle Bio on Treating Gaucher with Microbes
Gaucher is the best known lysosomal storage disease, but there are many others. ... If we can show this works on Gaucher, we can try it on other rare lysosomal storage diseases." ... This often-deadly accumulation is known as a lysosomal storage disease, and it can result in the spleen growing to 15 times its ... which treats Gauchers disease. The microbe can be ingested by patients in the form of a time-release pill and would be an ...
DisorderGlucocerebrosidaseEnlarged spleenParkinson'sMacrophagesNational Gaucher FoundationDiagnosisPatients With Type 1 Gaucher DiseaseLSDsPhilippe Charles Ernest GaucherGaucher's DiseaseGlucocerebrosideLysosomesSymptoms of Gaucher diseaseManifestations of Gaucher diseaseProteinsNeuronopathic Gaucher diseaseFabry DiseaseSeverityDeficientNeurologicalTypes of lysosomal storageMetabolic diseasesNeurodegenerativePathophysiologyTypeGlucosylceramideLiverGenesTreat Gaucher diseaseEnzyme deficiencyImigluceraseGlycogenBone marrowAffectsDysfunction
- Gaucher disease (GD) is an autosomal recessive hereditary lysosomal storage disorder. (centerwatch.com)
- Bi-allelic GBA1 mutations cause Gaucher's disease (GD), the most common lysosomal storage disorder. (biologists.org)
- Gaucher's disease (GD) is the most common lysosomal storage disorder (LSD). (biologists.org)
- Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase (GBA). (medlineplus.gov)
- citation needed] Disorders of carbohydrate metabolism E.g., glycogen storage disease, G6PD deficiency Disorders of amino acid metabolism E.g., phenylketonuria, maple syrup urine disease, glutaric acidemia type 1 Urea Cycle Disorder or Urea Cycle Defects E.g. (wikipedia.org)
- Gaucher disease, the most prevalent lysosomal storage disorder, is caused by mutations in the human glucocerebrosidase gene (GCD), which have been mapped to chromosome 1 q21-q31, leading to reduced activity of the lysosomal enzyme glucocerebrosidase and thereby to the accumulation of substrate glucocerebroside (GlcCer) in the cells of the monocyte-macrophage system. (clinicaltrials.gov)
- 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)
- In a storage disorder, a critical failure in a metabolic pathway prevents cellular breakdown and disposal of some large molecule. (wikipedia.org)
- Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the glucosidase, beta, acid (GBA) gene that encodes the lysosomal enzyme glucosylceramidase (GCase). (pnas.org)
- Gaucher disease (GD) is the most prevalent lysosomal storage disorder. (pnas.org)
- When Emory's Lysosomal and Peroxisomal Storage Disease Center was founded in 1993, Type I Gaucher disease was the first and only genetic disorder that could be treated effectively with enzyme replacement therapy (ERT). (emory.edu)
- An international study has shed new light on the genetic factors associated with Parkinson's disease, pointing at a group of lysosomal storage disorder genes as potential major contributors to the onset and progression of this common neurodegenerative disorder. (news-medical.net)
- A new article suggests that an enzyme deficiency seen in the lysosomal storage disorder Krabbe's disease may point to new mechanisms underlying certain late-onset neurodegenerative diseases such as Parkinson's disease. (news-medical.net)
- At first doctors thought I had a blood disorder, Von Willebrand disease . (plos.org)
- This lysosomal storage disorder is relevant to the understanding of Parkinson's disease and dementia with Lewy bodies, as well. (alzforum.org)
- Gaucher's disease is a genetically inherited disorder that causes a deficiency in the enzyme glucocerebrosidase. (news-medical.net)
- The activities of lysosomal enzymes will be measured in peripheral and easily accessible compartments of patients with PD or AD, as well as in patients with the relevant lysosomal disorder. (northwestern.edu)
- Gaucher disease, a lysosomal storage disorder, is a multisystem disorder with variable and unpredictable onset and severity. (hindawi.com)
- Gaucher disease, a prevalent lysosomal storage disorder, is a multisystem disorder with variable and unpredictable onset and severity especially in the common nonneuronopathic form [ 1 ]. (hindawi.com)
- Patient-derived macrophages are the latest model of Gaucher's disease, a lysosomal storage disorder. (alzforum.org)
- Gaucher's disease is the most common lysosomal storage disorder and can be included in disturbances of the marrow reticulum. (amazonaws.com)
- Classically, lysosomal dysfunction can occur by a mutation in genes encoding one of the lysosomal catalytic enzymes, resulting in accumulation of molecules that are normally degraded and consequently leading to a storage disorder. (neurologyadvisor.com)
- Gaucher disease is a typical lysosomal storage disorder resulting from an inborn deficiency of glucocerebrosidase. (alzheimer-europe.org)
- Mutations in the glucocerebrosidase ( GBA ) gene are best known for causing the lysosomal storage disorder, Gaucher disease. (lww.com)
- Gaucher disease is an autosomal recessive disorder caused by mutations in the GBA gene which results in a deficiency of the lysosomal enzyme beta-glucocerebrosidase. (gaucher.org.uk)
- In this lysosomal storage disorder, clinical features are reflective of the distribution of Gaucher cells in the liver, spleen, bone marrow, and other organs. (gaucher.org.uk)
- It is illustrated on data from a proteomics study of Gaucher disease, a lysosomal storage disorder. (uva.nl)
- Fabry disease is a lysosomal storage disorder for which currently no blood biomarker is available. (uva.nl)
- Deficiencies in this gene also are known to cause Gaucher disease, a lysosomal storage disorder ," said first author Dr. Laurie Robak, instructor of molecular and human genetics at Baylor College of Medicine. (medicalxpress.com)
- In this study, the researchers investigated whether changes in lysosome storage disorder genes in general could be linked to risk for Parkinson's disease. (medicalxpress.com)
- Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease. (medicalxpress.com)
- While heterozygous mutations result in adult onset frontotemporal dementia, the much rarer homozygous null mutations cause an early onset lysosomal storage disorder. (bireme.br)
- Gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene GBA1 . (biologists.org)
- Parkinson's disease (PD) is the most prevalent movement disorder and the second most common neurodegenerative condition after Alzheimer's disease (AD). (bmj.com)
- It's one type of lysosomal storage disorder, which happens when you're missing important enzymes that help your body break down proteins, carbs, and other substances. (webmd.com)
- Gaucher disease is a lysosomal storage disorder caused by a deficiency in glucocerebrosidase activity that leads to accumulation of glucosylceramide and glucosylsphingosine. (sigmaaldrich.com)
- Gaucher disease , rare inherited metabolic disorder characterized by anemia , mental and neurologic impairment, yellowish pigmentation of the skin, enlargement of the spleen , and bone deterioration resulting in pathological fractures. (britannica.com)
- Pompe disease (PD), also referred to as acid maltase deficiency (AMD) or glycogen storage disease type II (GSDII), is an autosomal recessive disorder caused by a deficiency of the lysosomal enzyme acid- α -glucosidase (GAA) [ 1 ]. (hindawi.com)
- Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by deficiency in acid beta-glucosidase. (biomedcentral.com)
- Gaucher disease is a lysosomal glycolipid storage disorder caused by an enzymatic deficiency (acid beta- galactosidase deficiency). (questdiagnostics.com)
- This neurodegenerative lysosomal storage disorder is characterized by growth and psychomotor retardation, progressive retinal degeneration, clouding of the cornea, and crossed eyes. (questdiagnostics.com)
- This lysosomal storage disorder is characterized by diminished acid sphingomyelinase activity. (questdiagnostics.com)
- Gaucher disease is an autosomal recessive sphingolipid storage disorder that results from a deficiency of lysosomal [Beta]-glucocerebrosidase. (thefreelibrary.com)
- Gaucher disease is a rare and serious lysosomal storage disorder in humans with severe and debilitating symptoms. (gaucher.org.uk)
- Reporting in the Proceedings of the National Academy of Sciences (PNAS), researchers at Washington University School of Medicine in St. Louis have identified an unusual cause of the lysosomal storage disorder called mucolipidosis III, at least in a subset of patients. (newswise.com)
- As a result, children with this disorder have lysosomal proteins in their blood at levels 10 to 20 times higher than normal. (newswise.com)
- Having implicated wayward phosphotransferase in this lysosomal storage disorder, Kornfeld and his colleagues are investigating what goes wrong that allows it to escape the Golgi. (newswise.com)
- While there are at least 34 different genetic mutations known to cause Gaucher disease, 4 of these mutations account for roughly 95% of the known cases amongst Ashkenazi Jews afflicted with the disorder. (brighthub.com)
- Gaucher disease is an autosomal recessive disorder which means that both parents must be carriers for a child to be afflicted. (brighthub.com)
- Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. (healthcanal.com)
- Gaucher's disease, a lysosomal storage disorder that causes hematologic abnormalities such as anemia and enlargement of the liver and spleen, affects about 2,500 people in the U.S. (medpagetoday.com)
- Gaucher disease (GD) is a rare, genetic lysosomal storage disorder caused by functional defects of acid β-glucosidase that results in multiple organ dysfunction. (nih.gov)
- Gaucher's disease is a rare, inherited disorder that causes too much of a substance called glucocerebroside to build up in your spleen, liver, lungs, bones and sometimes in your brain. (icd10data.com)
- that disclosed using neutralizing antibody production in patients given Ceredase to manage Gaucher's disease (another lysosomal storage disorder). (patentdocs.org)
- Targeted Cell Therapies lead compound is for Gaucher Disease, the most common lysosomal storage disorder. (massbiomed.org)
- Occurrence of the disease is due to a hereditary deficiency of the Glucocerebrosidase, a lysosomal enzyme which divides Glucocerebroside into Glucose and Ceramides. (centerwatch.com)
- prGCD is a plant cell expressed recombinant glucocerebrosidase enzyme for the treatment of Gaucher disease. (clinicaltrials.gov)
- New evidence suggests that mutations in the gene for glucocerebrosidase are a risk factor for the development of Parkinson disease. (medscape.com)
- [ 14 , 15 ] Of subjects with Parkinson disease and related Lewy body disorders, 3-20% carry a mutation in glucocerebrosidase, with the higher frequency being among Ashkenazi Jewish subjects. (medscape.com)
- In Gaucher disease, a deficient enzyme (glucocerebrosidase) causes build-up of glucocerebroside , which enlarges the liver and spleen. (plos.org)
- People with Gaucher's have mutations in the glucocerebrosidase (GBA) gene, which encodes a lysosomal enzyme that chops up lipids. (alzforum.org)
- Also known as glucosylceramide lipidosis, Gaucher's disease is caused by inactivation of the enzyme glucocerebrosidase and accumulation of glucocerebroside. (google.com)
- The company's first product is an engineered gut microbe that secretes an enzyme, glucocerebrosidase, which treats Gaucher's disease. (xconomy.com)
- Gaucher patients have glucocerebrosidase deficiencies, which allow a fat-sugar molecule called glucosylceramide to accumulate in organs, white blood cells, and bone marrow. (xconomy.com)
- The manuscript details how the heat-shock amplifier, arimoclomol, improves the refolding, maturation, and lysosomal activity of glucocerebrosidase (GCase), the enzyme deficient in Gaucher disease and linked to Parkinson's disease. (yahoo.com)
- Specifically, we identified glucocerebrosidase, an enzyme that causes Gaucher's disease when mutated, as novel therapeutic target for Parkinson's disease and related synucleinopathies. (northwestern.edu)
- Disease-specific enzyme replacement therapy (ERT) with mannose-terminated glucocerebrosidase (alglucerase, Ceredase, Genzyme Corporation, Cambridge, MA, USA) was introduced in 1991 [ 2 ]. (hindawi.com)
- For the non-neuropathic form of Gaucher's disease, administration of glucocerebrosidase, the deficient enzyme in question, has resulted in definite clinical imrovements. (springer.com)
- But in Gaucher disease, glucocerebrosidase doesn't work very well. (verywellhealth.com)
- Gaucher disease (GD) is a rare lysosomal storage disease caused by deficiency in the enzyme beta-glucocerebrosidase. (biomedcentral.com)
- It is characterised by a deficiency of the lysosomal enzyme glucocerebrosidase which results in the deposition of glucocerebroside in visceral organs, in the reticuloendothelial system, and in the nervous system. (alzheimer-europe.org)
- Laboratory diagnosis of Gaucher disease is performed by measuring glucocerebrosidase activity using a fluorimetric asssay. (alzheimer-europe.org)
- A European consensus on the management of Gaucher disease recommended enzyme replacement therapy with macrophage-targeted recombinant human glucocerebrosidase and found that it ameliorates systemic involvement and enhanced quality of life. (alzheimer-europe.org)
- Rudensky B, Paz E, Altarescu G, Raveh D, Elstein D, Zimran A: Fluorescent flow cytometric assay: a new diagnostic tool for measuring beta-glucocerebrosidase activity in Gaucher disease. (alzheimer-europe.org)
- Parkinson disease (PD) patients with glucocerebrosidase gene variants had an earlier age at onset for the disease than those who didn't have the gene mutations. (lww.com)
- In recent years, defects in the glucocerebrosidase (GBA) gene have been identified as significant risk factors for Parkinson's disease. (medicalxpress.com)
- Gaucher disease is caused by defective glucocerebrosidase activity and the consequent accumulation of glucosylceramide. (biomedcentral.com)
- Gaucher Disease is among the most prevalent, recessively inherited, lysosomal storage disorders that are caused by a deficiency in the enzyme glucocerebrosidase. (biospace.com)
- Glucocerebrosidase is a lysosomal hydrolase involved in the breakdown of glucosylceramide. (biologists.org)
- These mutations result in defects in the synthesis of an enzyme called glucocerebrosidase , leading to the accumulation of lipids called glucocerebrosides in Gaucher cells. (britannica.com)
- Type 1 Gaucher disease may be treated by enzyme replacement therapy in which injections of imiglucerase, a synthetic analog of glucocerebrosidase that is made using recombinant DNA technology , are administered on a weekly or biweekly basis. (britannica.com)
- Gaucher disease, the most common lysosomal storage disease, is caused by mutations in the gene encoding the lysosomal enzyme, glucocerebrosidase encoded by the Gba gene. (nih.gov)
- It is an autosomal recessive, multisystem disease arising from a deficiency of glucocerebrosidase or beta-glucosidase activity, resulting in the accumulation of a glycolipid (glucocerebroside) within the lysosomes of macrophages, particularity in the bone marrow , spleen and liver . (radiopaedia.org)
- prGCD, the Company's lead product candidate, is a proprietary plant-cell expressed recombinant form of glucocerebrosidase and is currently the subject of a Phase III clinical trial for the treatment of Gaucher disease. (gaucher.org.uk)
- Patients with Gaucher s disease have low levels of glucocerebrosidase. (medindia.net)
- To reduce spleen and liver size, patients with Gaucher disease can undergo enzyme replacement treatment with intravenous recombinant glucocerebrosidase. (brighthub.com)
- The drug supplements or replaces beta-glucocerebrosidase, an enzyme that catalyzes the hydrolysis of glucocerebroside and corrects the pathophysiology of Gaucher's disease. (medpagetoday.com)
- In a Flanders-Belgian cohort, carrier status of a heterozygous glucocerebrosidase (GBA ) mutation was a strong genetic risk factor for Parkinson's disease (PD). (antikoerper-online.de)
- An inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase. (icd10data.com)
- UPLYSO is a form of the human lysosomal enzyme, glucocerebrosidase, used to treat Gaucher disease. (corporate-ir.net)
- Although the hallmark symptoms of Parkinson's disease (PD) - such as involuntary shaking, slowness of movement and muscle rigidity - are related to movement, recent evidence has suggested that memory impairment plays an outsized role in diminished quality of life and the burden placed on caregivers. (news-medical.net)
- But this rare disease actually impacts a much more common one: being a carrier for Gaucher disease is a risk factor for Parkinson's disease (PD), increasing the likelihood of cognitive impairment. (plos.org)
- Leanna's parents and sister are carriers of Gaucher disease, and she has other relatives who have Parkinson's disease. (plos.org)
- Despite significant investments of public and private resources in research on Alzheimer's disease (AD), Parkinson's disease (PD), Amyotrophic Lateral Sclerosis (ALS), Huntington's disease (HD), and other neurodegenerative diseases, there are currently no neuroprotective therapies available for patients. (northwestern.edu)
- In our recent work we found that Gaucher disease, a rare lysosomal storage disease that predominately affects children, is mechanistically linked to Parkinson's disease (1,2). (northwestern.edu)
- Levodopa may have a slight edge over newer treatments for Parkinson's disease. (alzforum.org)
- Passive immunotherapy shows moderate success in a mouse model of sporadic Parkinson's disease. (alzforum.org)
- We report the cognitive features and progression of Parkinson's disease (PD) in five patients with concurrent Gaucher disease. (springer.com)
- Immunohistochemistry for alpha-synuclein showing positive staining (brown) of an intraneural Lewy-body in the Substantia nigra in Parkinson's disease. (medicalxpress.com)
- Individuals with Gaucher disease can have family members with Parkinson's disease," Robak said. (medicalxpress.com)
- People who carry one defective copy of the GBA gene have a 5- to 8-fold increase in the risk of having Parkinson's disease later in life. (medicalxpress.com)
- Although more research remains to be done, these data suggest the interesting possibility that damage to the lysosome might be at the core of Parkinson's disease," Shulman said. (medicalxpress.com)
- Better understanding the genetics of Parkinson's disease is important because it can lead to improved diagnosis, more insights on how the disease develops and progresses and perhaps suggest new therapies," Robak said. (medicalxpress.com)
- Parkinson's disease (PD) is a complex and heterogeneous neurological condition characterised mainly by bradykinesia, resting tremor, rigidity and postural instability, symptoms that together comprise the parkinsonian syndrome. (bmj.com)
- Although the causes of Parkinson's disease (PD) are thought to be primarily environmental, recent studies suggest that a number of genes influence susceptibility. (plos.org)
- We conducted a large genome-wide association study (GWAS) of Parkinson's disease (PD) with over 3,400 cases and 29,000 controls (the largest single PD GWAS cohort to date). (plos.org)
- Our study thus illustrates the ability of web-based methods for enrollment and data collection to yield new scientific insights into the etiology of disease, and it demonstrates the power and reliability of self-reported data for studying the genetics of Parkinson's disease. (plos.org)
- The University of Rochester Medical Center is home to approximately 3,000 individuals who conduct research on everything from cancer and heart disease to Parkinson's, pandemic influenza and autism. (rochester.edu)
- Current enzyme replacement and substrate reduction therapies are expensive and still associated with inflammation, increased risk of malignancies and Parkinson's disease," says Manoj Pandey, PhD , study first author and a scientist in the Division of Human Genetics at Cincinnati Children's. (cincinnatichildrens.org)
- Accumulation of Glycolipid-enriched macrophages establishes a pathoanatomical phenomenon, the so-called Gaucher cells, which can be verified by light microscopy of affected tissues. (centerwatch.com)
- Inherited deficiency of glucosylceramidase (GCase) causes storage of glucosylceramide (glccer), mainly in the macrophages throughout the body, with consequent hepatosplenomegaly, cytopenias, and bone disease as key clinical features ( 1 , 2 ). (pnas.org)
- Gaucher's disease may also be suspected if cytology studies show the cytoplasm resembles the appearance of crinkled paper and has macrophages laden with glycolipid. (news-medical.net)
- Using this unique "disease-in-a-dish" iPSC model, we found that the abnormal phenotype of Gaucher macrophages is not merely due to an accumulation of lipid, but there is also a defect in intracellular membrane transport, which blocks the flow of cargo (phagocytosed material, protein aggregates, organelles for recycling) to the lysosome. (umaryland.edu)
- The mutant iPSC-derived macrophages exhibit a striking delay in clearing of phagocytosed red blood cells, which recapitulates a characteristic hallmark of the disease (Panicker et al. (umaryland.edu)
- The pathogenic pathways resulting from lipid laden macrophages (Gaucher cells) in visceral organs and their abnormal functions are obscure. (biomedcentral.com)
- Time course analyses (12 to 28 wk) of INFγ-regulated pro-inflammatory (13) and IL-4-regulated anti-inflammatory (11) cytokine/mediator networks showed tissue differential profiles in the lung and liver of the Gba1 mutant mice, implying that the lipid-storage macrophages were not functionally inert. (biomedcentral.com)
- The pathologic hallmark of Gaucher disease is the presence of lipid laden macrophages, a.k.a. (biomedcentral.com)
- Bone marrow examination at that time had shown foamy macrophages and a lysosomal enzyme study revealed reduced levels of beta-glucosidase (Patient: 3.7 nmol/m/hr, Control: >13 nmol/m/hr), raised plasma chitotriosidase (4274.8 nmol/m/hr) and normal levels of sphingomyelinase enzyme. (pediatriconcall.com)
National Gaucher Foundation3
- This month, JScreen's "Spit Happens" campaign is covering all costs not met by insurance for testing for carrier status for Gaucher disease, thanks to funding from the National Gaucher Foundation . (plos.org)
- Another youngster with a giant spleen who would turn out to have Gaucher disease, and grow up to be the president and CEO of the National Gaucher Foundation, is Brian Berman. (plos.org)
- National Gaucher Foundation: "Symptoms of Gaucher Disease. (webmd.com)
- Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. (medscape.com)
- Partly because of this, diagnosis of Gaucher disease sometimes takes a while. (verywellhealth.com)
- And even though members of the cohort did have Gaucher-like symptoms-spleen enlargement, low platelets, fatigue-and they were Ashkenazi Jews (a high-risk population), doctors most likely were not informed enough about GD to consider it a possible diagnosis. (gaucherdisease.org)
- Lyso-Gb1 has previously been proven to be a highly sensitive and specific biomarker for the diagnosis and monitoring of adult patients suffering from Gaucher Disease," commented Prof. Arndt Rolfs, MD, CEO CENTOGENE and a contributing author of the study. (biospace.com)
- Biomarkers are extremely important in the diagnosis and treatment monitoring of rare disease patients, and for children suffering from Gaucher Disease in particular we have seen that lyso-Gb1 is an extremely effective biomarker in treatment monitoring ̶ and indeed should be included in the routine follow-up of these patients. (biospace.com)
- 5,6) Definitive diagnosis for both diseases is made by enzyme assay. (pediatriconcall.com)
- Molecular studies for mutation are useful in confirming diagnosis, screening family members, and prognosticating the disease. (pediatriconcall.com)
- The information should not be used for either diagnosis or treatment or both for any health related problem or disease. (medindia.net)
- CARMIEL, Israel , April 29, 2013 (GLOBE NEWSWIRE) -- Protalix BioTherapeutics, Inc. (NYSE-MKT:PLX) (TASE:PLX), announced today that the Mexican Federal Commission for the Protection against Sanitary Risk (COFEPRIS) and the Public Health Institute of Chile have both granted regulatory approval to UPLYSO™ (alfataliglicerase) for the long-term enzyme replacement therapy for adults with a confirmed diagnosis of Type I Gaucher disease. (corporate-ir.net)
- ELELYSO™ (taliglucerase alfa) for injection is a hydrolytic lysosomal glucocerebroside-specific enzyme indicated for long-term enzyme replacement therapy (ERT) for adults with a confirmed diagnosis of Type 1 Gaucher disease. (corporate-ir.net)
- An increasing diagnosis rate due to increasing awareness and financial incentives for orphan drug development to recover R&D costs is the primary factor fueling the growth of the global lysosomal storage diseases therapeutics market. (sbwire.com)
Patients With Type 1 Gaucher Disease1
- LSDs are pathologically typified by lysosomal inclusions composed of a heterogeneous mixture of various proteins and lipids that can be found throughout the body. (frontiersin.org)
- Since the discovery of the lysosome nearly 60 years ago by de Duve (1969) , the field of lysosomal storage diseases (LSDs) has expanded significantly. (frontiersin.org)
- The lysosomal storage diseases (LSDs) are a group of conditions in which certain substances or substrates build up in compartments of the body's cells called lysosomes. (emory.edu)
- For a majority of LSDs, therapeutic management consists of symptomatic care of disease manifestations, with no possibility for cure. (ahrq.gov)
- Each of the over thirty known lysosomal storage diseases (LSDs) is characterized by a similar pathogenesis, namely, a compromised lysosomal hydrolase. (google.com)
- These discoveries provide a foundation for additional studies in the area of lysosomal diseases and neurodegeneration, including the examination of links between other lysosomal storage diseases (LSDs) and accumulations of Tau or Aβ that are associated with dementias such Alzheimer's disease. (northwestern.edu)
- Tay-Sachs disease, Neimann-Pick disease and Gaucher disease are some of the more common LSDs. (stanford.edu)
- As a result of lysosomal dysfunction and resultant disturbance of cellular homeostasis, LSDs have a broad spectrum of clinical manifestations including dysmorphism, visceromegaly, skeletal and joint abnormalities, hematologic findings and significant central and peripheral nervous system impairment. (neurologyadvisor.com)
- Storage syndrome is present in several LSDs, especially mucopolysaccharidoses (MPSs). (neurologyadvisor.com)
- LSDs include Krabbe disease, Gaucher disease , metachromatic leukodystrophy and about 40 related conditions. (rochester.edu)
Philippe Charles Ernest Gaucher1
- Gaucher's disease E.g. (wikipedia.org)
- Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease. (medscape.com)
- Gaucher's disease Market Insights, Epidemiology and Market Forecast - 2023 United States" Reports provides an overview of the disease and global market size of the Gaucher disease for the United States. (medgadget.com)
- It also provides Market size of Gaucher's disease for United States from 2010 and forecasted Market size to 2023. (medgadget.com)
- Researchers have implicated a member of the cellular death squad known as the "necrosome" in the pathogenesis of Gaucher's disease. (alzforum.org)
- Futerman and colleagues next explored RIPK3's part in Gaucher's disease pathogenesis by pharmacologically inducing the disease in RIPK3-knockout mice. (alzforum.org)
- Gaucher's disease, first described by Phillipe C. E. Gaucher in 1882, is the oldest and most common lysosomal storage disease known. (google.com)
- The incidence of Type 1 Gaucher's disease is about one in 50,000 live births generally and about one in 400 live births among Ashkenazim (see generally Kolodny et al. (google.com)
- Gaucher's disease is one of the most common forms of lysosomal storage disease. (news-medical.net)
- Chitotriosidase is also useful for monitoring a patient's response to enzyme replacement therapy in Gaucher's disease. (news-medical.net)
- J O King: Aggressive myoclonic epilepsy due to Gaucher's disease in an adult. (alzheimer-europe.org)
- J F Neil, R H Glew, S P Peters: Familial psychosis and diverse neurologic abnormalities in adult-onset Gaucher's disease. (alzheimer-europe.org)
- Is it gaucher's disease or niemann-pick's disease? (pediatriconcall.com)
- In 2011, she was diagnosed with Gaucher's disease and advised regarding enzyme replacement therapy. (pediatriconcall.com)
- Is this Gaucher's disease or Niemann Pick disease? (pediatriconcall.com)
- Gaucher's disease (GD) is the most common lysosomal storage disease in India and worldwide and should be considered in any child or adult with unexplained hepatosplenomegaly and cytopenia. (pediatriconcall.com)
- There's no specific treatment for type 2 Gaucher's disease. (medindia.net)
- Type 1 or 3 Gaucher's disease may be treated with enzyme replacement therapy , bone marrow transplantation and specific medication. (medindia.net)
- Oral medication: A drug called miglustat (Zavesca) has been approved for use in people with Gaucher's disease. (medindia.net)
- People with mild cases of Gaucher's disease may have close to normal life expectancies. (medindia.net)
- A mechanism that enables a potential treatment for Gaucher's disease and other lysosomal storage diseases has been described by scientists at The Scripps Research Institute. (medindia.net)
- WASHINGTON -- A second company has been given an FDA go-ahead to market an as-yet-unapproved drug to treat Gaucher's disease, helping to remedy a shortage of the only agent approved for the condition. (medpagetoday.com)
- The studies enrolled both treatment-naive and previously treated patients with type I Gaucher's disease, comparing hemoglobin concentration and platelet count between patients taking velaglucerase and those taking imiglucerase. (medpagetoday.com)
- In Gaucher disease, lysosomes swell so greatly that the cells containing them burst. (plos.org)
- As a consequence, the substrate of the compromised enzyme accumulates undigested in lysosomes, producing severe disruption of cellular architecture and various disease manifestations. (google.com)
- When lysosomes fail and cellular waste accumulates, disease follows. (medicalxpress.com)
Symptoms of Gaucher disease2
- When considering the symptoms of Gaucher disease, it is important to remember that people experience a wide variety of symptom severity. (verywellhealth.com)
- Therapies aimed at managing other symptoms of Gaucher disease include analgesics (to relieve pain) and bisphosphonates (to prevent bone loss). (britannica.com)
Manifestations of Gaucher disease1
- Lysosomal storage diseases (LSD) are a group of inherited diseases due to deficiency of lysosomal proteins such as hydrolases, membrane proteins, and lysosomal accessory proteins, which causes blockage in specific lysosomal catabolic pathways and storage of undegraded substrates. (frontiersin.org)
- Our research focuses on developing therapies for diseases caused by misfolding of proteins, including lysosomal storage diseases. (yahoo.com)
- Other forms of lysosomal dysfunction are caused by defects of lysosomal membrane proteins, errors in enzyme targeting and defective function of lysosomal enzyme activators. (neurologyadvisor.com)
- Saposins are specific low-molecular mass non-enzymic proteins, they participate in the lysosomal degradation of sphingolipids, which takes place by the sequential action of specific hydrolases. (genecards.org)
- There are 60 such lysosomal proteins, and all of them must be properly labeled if they are to end up in a lysosome, where they recycle waste. (newswise.com)
- While the errant phosphotransferase ends up being degraded in the lysosome, the resulting misdirected lysosomal proteins end up in the bloodstream. (newswise.com)
- Mutant GBA proteins cause increases in alpha-synuclein (zeige SNCA [email protected]@ ) levels, while an inhibition of GBA by alpha-synuclein (zeige SNCA [email protected]@ ) has been also demonstrated in Gaucher disease patients with Parkinson disease. (antikoerper-online.de)
Neuronopathic Gaucher disease3
- prGCD safety will be observed in this treatment protocol of patients with non-neuronopathic Gaucher disease who require enzyme replacement therapy. (clinicaltrials.gov)
- Lipid composition of microdomains is altered in neuronopathic Gaucher disease sheep brain and spleen. (sigmaaldrich.com)
- membrane rafts) from the occipital cortex and spleen from sheep affected with acute neuronopathic Gaucher disease and wild-type controls. (sigmaaldrich.com)
- To date, more than 50 LSD have been described, all of them inherited as autosomal recessive, with the exception of Danon disease, Fabry disease, and mucopolysaccharidosis type II, which are X-linked ( 2 , 3 ). (frontiersin.org)
- Fabry disease is a panethnic lipidosis first described in 1898 by Johannes Fabry and William Anderson. (thefreelibrary.com)
- Its incidence rate is estimated at between 1 in 40 000 and 1 in 117 000 births worldwide by the Fabry Outcome Survey, the biggest European Fabry disease database. (thefreelibrary.com)
- Fabry disease follows a recessive X-linked pattern of inheritance. (thefreelibrary.com)
- The European consensus on laboratory diagnostics of Fabry disease recommends the assessment of [alpha]-galactosidase A activity in plasma and leukocytes in males. (thefreelibrary.com)
- It might be argued that the procedure used for protein profiling is not sensitive enough to detect early manifestations of Fabry disease. (uva.nl)
- We currently have several studies focused on Past Pregnancy Complications in Women with Fabry Disease and Treating Depression and Adaptive Functioning issues in Fabry Disease. (emory.edu)
- The Fabry Registry is an ongoing, post marketing observational database that tracks the natural history and outcomes of patients with Fabry disease. (emory.edu)
- Participation is open to all patients with Fabry disease. (emory.edu)
- National Fabry Disease Foundation: "Symptoms Overview. (webmd.com)
- Provided are in vitro and in vivo methods for determining whether a patient with Fabry disease will respond to treatment with a specific pharmacological chaperone. (patents.com)
- These diseases in general do not have central nervous system manifestations, although this may vary by the severity of disease expression. (ahrq.gov)
- The disease is very variable in age of onset, symptom severity, and rate of progression. (plos.org)
- Serum levels of M-CSF, sCD14 (a macrophage activation marker), and IL-8 can also be increased and correlations have been made with the severity of Gaucher disease [ 3 ]. (biomedcentral.com)
- In a paper published in June 2019 in the International Journal of Molecular Sciences , a four-year study of 81 children suffering from Gaucher Disease (GD) of varying severity reveals that glucosylsphingosine (lyso-Gb1) is an extremely accurate biomarker for monitoring children suffering from GD. (biospace.com)
- This international study has demonstrated a correlation between lyso-Gb1 levels and disease severity among children suffering from Gaucher Disease, and the importance of using this biomarker in monitoring treated and untreated children. (biospace.com)
- Validating a New Severity Score System for Adults With Type 1 Gaucher Disease(GD1). (emory.edu)
- The purpose of this study is to evaluate the validity of a new severity score system called DS3 for adult patients with Gaucher disease. (emory.edu)
- The level of enzyme deficiency does not directly correlate with disease severity, indicating that there is still a lot to learn about the diseases caused by this deficient enzyme. (managedcaremag.com)
- In general, disease severity is inversely related to residual acid- α -glucosidase activity. (hindawi.com)
- Depending on the type and severity of symptoms, other treatments include blood transfusions (for Gaucher patients with anemia), splenectomy (to remove spleens enlarged to the point of causing discomfort), antibiotics, liver transplants, bisphosphonates for bone lesions, and antiepileptics. (brighthub.com)
- age at onset of first symptoms depends on the residual function of the deficient lysosomal enzyme. (neurologyadvisor.com)
- In people with Gaucher disease, this enzyme is deficient, or it doesn't work as well as it should. (verywellhealth.com)
- Rab7 (zeige RAB7B Antikörper ) accumulated in GCase deficient cells, supporting the notion that lysosomal recycling is impaired. (antikoerper-online.de)
- Presence of neurological signs and symptoms characteristic of Gaucher disease with complex neuronopathic features other than longstanding oculomotor gaze palsy. (clinicaltrials.gov)
- An interview with Dr. Peggy Taylor, discussing the biggest neurological research questions of today and how BioLegend is helping to develop new biomarkers for neurological disease. (news-medical.net)
- Effective treatments are available for the systemic manifestations of the disease - however, no therapies are available for the neurological symptoms. (yahoo.com)
- In the infantile, neuronopathic form (Type 2) visceral and neurological involvement is prominent and infants with the disease typically die before the age of 2 years. (alzheimer-europe.org)
- In addition, there exists a rare cardiovascular form of Gaucher disease (sometimes called Gaucher-like disease) that is characterized by cardiovascular calcification (hardening) and neurological dysfunction of the eye (oculomotor apraxia ). (britannica.com)
- Enzyme replacement therapy is generally ineffective in treating type 2 and type 3 Gaucher disease, because the molecules of imiglucerase are large and therefore cannot cross the blood-brain barrier to enter the central nervous system to treat neurological symptoms. (britannica.com)
Types of lysosomal storage2
- Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases. (wikipedia.org)
- Following are some of the major classes of congenital metabolic diseases, with prominent examples of each class. (wikipedia.org)
- Researchers estimate that the prevalence of metabolic diseases like obesity and diabetes is expected to double in the coming 2 decades, mainly in U.S. and Asian and Latin American countries. (ptcommunity.com)
- The Texas State Department of Health (TDSH) screens approximately 400,000 newborns annually for inherited metabolic diseases and other conditions. (childrens.com)
- The Metabolism Clinic physicians are available for inpatient and outpatient consultations for physicians with diagnostic or management concerns related to metabolic diseases. (childrens.com)
- These findings also demonstrate that normal microglial cells cannot rescue this neurodegenerative disease. (pnas.org)
- Scientists have linked the enzyme to other neurodegenerative diseases as well. (alzforum.org)
- These studies will produce information which will aid drug targeting in general to the CNS and will further advance the possibility of treating a wide range of neurodegenerative diseases. (unipd.it)
- This is a metabolic product likely to be involved in the pathophysiology of the disease. (centerwatch.com)
- These analyses implicate IFNγ-regulated pro-inflammatory and IL-4-regulated anti-inflammatory networks in differential disease progression with implications for understanding the Gaucher disease course and pathophysiology. (biomedcentral.com)
- The evolving mechanistic insight into the pathophysiology of PD and related conditions will contribute to the development of targeted and effective symptomatic treatments into disease-modifying therapies that will reduce the burden of these dreadful conditions. (bmj.com)
- This article describes the symptoms, pathophysiology, and treatment of Gaucher Disease. (brighthub.com)
- The infantile form of Gaucher disease (Type 2) may lead to early death. (medlineplus.gov)
- Adults with the type 1 form of Gaucher disease can expect normal life expectancy with enzyme replacement therapy. (medlineplus.gov)
- this pattern is especially common in patients with type 2 disease. (medscape.com)
- Parenchymal infiltration with fibrosis has been described in children with type 3 disease. (medscape.com)
- The prognosis for symptomatic patients with type 1 or type 3 Gaucher disease who receive treatment is very good, with a decrease in organomegaly and an eventual rise in hemoglobin levels and platelet counts. (medscape.com)
- Symptoms vary depending on the type of lysosomal storage disease your child may have. (childrensnational.org)
- Receptor-interacting kinase 3 (RIPK3), a protein involved in a type of cell suicide called necroptosis, ramped up neuroinflammation in mice with the disease, according to a report in the January 19 Nature Medicine. (alzforum.org)
- Long-term follow up of a patient transplanted for Hunter's disease type IIB: a case report and literature review. (springer.com)
- symptomatic patients with type 1 GD need long-term disease-specific therapy of which the standard of care has been enzyme replacement therapy (ERT). (luriechildrens.org)
- There are three major types of Gaucher disease: type 1, type 2, and type 3. (verywellhealth.com)
- Type 1 is the mildest form of Gaucher. (verywellhealth.com)
- It does not affect the nervous system, unlike type 2 and type 3 Gaucher disease. (verywellhealth.com)
- Type 2 Gaucher disease is the most severe type. (verywellhealth.com)
- A large majority of people with Gaucher disease have Type 1 disease. (verywellhealth.com)
- About 1 percent of people with Gaucher are thought to have type 2 disease. (verywellhealth.com)
- About 5 percent of people with Gaucher have type 3 disease. (verywellhealth.com)
- Symptomatic patients with type 1 GD are treated with enzyme replacement therapy (ERT) to improve disease-induced effects on hemoglobin, platelets, and liver and spleen volume. (unboundmedicine.com)
- In our survey involving 14 patients with Type 1 GD and 19 physicians, patients ascribed greater importance to fatigue than other disease parameters, while physicians placed more emphasis on objective measures of visceral and hematologic disease manifestations. (biomedcentral.com)
- Shire plc (LSE: SHP, NASDAQ: SHPGY), the global specialty biopharmaceutical company, announced today that the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency adopted a positive opinion on the marketing authorisation for VPRIV™ (velaglucerase alfa), the company's enzyme replacement therapy (ERT) for the treatment of type 1 Gaucher disease. (gaucher.org.uk)
- Symptoms will depend on the specific type of disease. (doctors-hospital.net)
- we would expect to find in a person with type 1 Gaucher disease. (ask.com)
- Type 1 is by far the most common form of Gaucher disease and has an especially high incidence among Ashkenazic Jews (ranging from 1 in 500 to 1 in 1,000 births). (britannica.com)
- Type 3 also affects the central nervous system but develops more slowly and is therefore considered a chronic form of Gaucher disease. (britannica.com)
- Adults with type 1 Gaucher disease that cannot be treated with imiglucerase may instead be treated with miglustat, a drug taken orally that inhibits the production of glucocerebrosides. (britannica.com)
- Treatments that may be considered for patients with type 2 or type 3 Gaucher disease, or when enzyme replacement therapy is not an option for patients with type 1, include splenectomy (removal of the spleen), blood transfusion , and bone marrow transplantation . (britannica.com)
- The L444P mutation in GBA is associated with type 3 Gaucher disease. (nih.gov)
- Individual response to enzyme replacement therapy (ERT) is however variable and determined by many factors: age of presentation, the rate of disease progression, muscle fibre type, defective autophagy, underlying genotype, and the development of rhGAA specific antibodies. (hindawi.com)
- Niemann pick disease (NPD) is classified as Type A (Classic infantile neuronopathic form), Type B (Non-neuronopathic visceral) and Type C (juvenile form). (pediatriconcall.com)
- Type 1 Gaucher s disease may sometimes present with meagre symptoms requiring no treatment at all. (medindia.net)
- Treatment is usually effective in Type 1 and Type 3 (some cases) diseases. (medindia.net)
- It interferes with the production of glucocerebrosides in some people with type 1 disease. (medindia.net)
- Children with type 2 disease (the infantile form)usually die in the first year of life. (medindia.net)
- Children with type 3 disease who live into their teens often survive for many more years. (medindia.net)
- 1. A method of treating glycogen storage disease type II in a human individual having glycogen storage disease type II, comprising administering to the individual a therapeutically effective amount of human acid α-glucosidase periodically at an administration interval, wherein the human acid α-glucosidase was produced in chinese [sic] hamster ovary cell cultures. (patentdocs.org)
- 20. A method of treating cardiomyopathy associated with glycogen storage disease type II in an human individual having glycogen storage disease type II, comprising administering to the individual a therapeutically effective amount of human acid α-glucosidase periodically at an administration interval, wherein the human acid α-glucosidase was produced in chinese [sic] hamster ovary cell culture. (patentdocs.org)
- Such studies also suggest a central role of glucosylceramide in altered macrophage function as an initiator of the disease pathogenesis. (biomedcentral.com)
- Consequently, systematic transcriptome analyses could provide useful insights into the resultant molecular events underlying GCase deficiency and glucosylceramide storage as well as related tissue pathogenesis in Gaucher disease. (biomedcentral.com)
- Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramide/GlcCer into free ceramide and glucose (PubMed:9201993, PubMed:24211208). (genecards.org)
- Targeting the molecule C5aR1 appears to block excess production of glucosylceramide, a hallmark of the disease. (cincinnatichildrens.org)
- As a consequence, lipids that are normally cleared by the lysosome build-up in tissues and organs, including the bone marrow, liver, spleen, and sometimes brain, and drive the disease pathology. (yahoo.com)
- Gaucher cells - large, finely and uniformly vacuolated cells derived from the reticuloendothelial system and found especially in the spleen, lymph nodes, liver, and bone marrow of patients with Gaucher disease. (thefreedictionary.com)
- Due to the circulatory link between the liver and spleen, many disease processes affect both. (marcorestauranteycafe.com)
- LIVER AND BILIARY DISEASE Ed Friedlander, M.D., Pathologist [email protected] No texting or chat messages, please. (marcorestauranteycafe.com)
- Too much can lead to Gaucher, a buildup of fatty substances in organs such as the spleen and liver that can enlarge the organs and affect their function. (cincinnatichildrens.org)
- TFEB controls the coordinated expression of autophagy and lysosomal genes and is negatively regulated by the mammalian target of rapamycin complex 1 (mTORC1). (biologists.org)
- Analysis of the mechanisms involved showed that mutant GBA1 interferes with lysosomal biogenesis by downregulation and destabilization of TFEB, the master regulator of lysosomal and autophagy genes (Awad et al. (umaryland.edu)
Treat Gaucher disease1
- The enzyme deficiency in Gaucher patients results in hepatosplenomegaly, hematologic abnormalities, bone disease, and there is a 50-fold increased propensity for development of B cell lymphomas and multiple myeloma. (umaryland.edu)
- Although the incidence of individual enzyme deficiency is rare, lysosomal storage diseases collectively occur in 1 in∼10,000 births. (springer.com)
- This is an open-label expanded access trial of prGCD in patients with Gaucher disease who require enzyme replacement therapy (ERT) and who have been treated with imiglucerase but for whom the dose has been reduced or discontinued due to shortage of the product. (clinicaltrials.gov)
- The objective of this study was to assess achievement of predefined therapeutic goals based on international registry outcomes for Israeli patients with Gaucher disease receiving imiglucerase for four consecutive years on a low-dose regimen followed in a single center. (hindawi.com)
- Ultimately a bone marrow biopsy found that I had Gaucher disease. (plos.org)
- Bone marrow involvement by malignant lymphoma is much more common with Non-Hodgkin disease than Hodgkin disease and spreads to the marrow 95% of the time hematogenously. (amazonaws.com)
- For example, the buildup of Gaucher cells in the bone marrow prevents your body from being able to produce the normal amounts of new blood cells there. (verywellhealth.com)
- People with Gaucher disease also often have unusual laboratory findings, such as on a bone marrow stain. (verywellhealth.com)
- Gaucher cells are large, wrinkled-appearing cells that store glycolipids and are usually found in the bone marrow and the spleen. (britannica.com)
- Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging--initial experience. (radiopaedia.org)
- Monolineage, bilineage or trilineage cytopenias (reflecting bone marrow involvement) or painless splenomegaly are often the initial findings in milder forms of the disease. (thefreelibrary.com)
- A second form of treatment is bone marrow transplantation, although this carries more risk and is generally not performed on individuals with Gaucher. (brighthub.com)
- The characteristic gaucher cells, glycosphingolipid-filled histiocytes, displace normal cells in bone marrow and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. (icd10data.com)
- Gaucher (pronounced "go-shay") disease affects 1 in 450 Jewish people of Ashkenazi (eastern European) descent (1 in 10 is a carrier), yet only 1 in 40,000 people in the general population. (plos.org)
- Classically, it affects hemizygous males with no residual [alpha]-galactosidase A activity, displaying all the characteristic signs of the disease. (thefreelibrary.com)
- Scrapie is a disease that affects sheep. (thefreedictionary.com)
- Dysfunction of the autophagy-lysosomal pathway represents a key pathogenic event in GBA1 -associated neurodegeneration. (biologists.org)
- Using an induced pluripotent stem cell (iPSC) model of GD, we previously demonstrated that lysosomal alterations in GD neurons are linked to dysfunction of the transcription factor EB (TFEB). (biologists.org)
- To further investigate the mechanism of autophagy-lysosomal pathway dysfunction in neuronopathic GD, we examined mTORC1 kinase activity in GD iPSC neuronal progenitors and differentiated neurons. (biologists.org)
- Treatment with the mTOR inhibitor Torin1 upregulated lysosomal biogenesis and enhanced autophagic clearance in GD neurons, confirming that lysosomal dysfunction is mediated by mTOR hyperactivation. (biologists.org)
- Our study uncovers a new mechanism contributing to autophagy-lysosomal pathway dysfunction in GD, and identifies the mTOR complex as a potential therapeutic target for treatment of GBA1 -associated neurodegeneration. (biologists.org)
- Storage syndrome - which results in dysmorphism (coarse facies, visceromegaly, organ dysfunction). (neurologyadvisor.com)
- By yet undefined mechanisms, this process leads to tissue dysfunction that can result in fibrosis and scarring during the later stages of the disease. (biomedcentral.com)
- Lysosome dysfunction is recognized as important in other diseases, such as diabetes and macular degeneration. (rochester.edu)