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)alpha-L-Fucosidase: An enzyme that catalyzes the hydrolysis of an alpha L-fucoside to yield an alcohol and L-fucose. Deficiency of this enzyme can cause FUCOSIDOSIS. EC 3.2.1.51.Carbohydrate Metabolism, Inborn ErrorsDisaccharidasesalpha-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.Dysostoses: Defective bone formation involving individual bones, singly or in combination.Fucosealpha-N-Acetylgalactosaminidase: A hexosaminidase with specificity for terminal non-reducing N-acetyl-D-galactosamine residues in N-acetyl-alpha-D-galactosaminides.Hematopoietic Stem Cell Transplantation: Transfer of HEMATOPOIETIC STEM CELLS from BONE MARROW or BLOOD between individuals within the same species (TRANSPLANTATION, HOMOLOGOUS) or transfer within the same individual (TRANSPLANTATION, AUTOLOGOUS). Hematopoietic stem cell transplantation has been used as an alternative to BONE MARROW TRANSPLANTATION in the treatment of a variety of neoplasms.Hematopoietic Stem Cells: Progenitor cells from which all blood cells derive.Transplantation, Homologous: Transplantation between individuals of the same species. Usually refers to genetically disparate individuals in contradistinction to isogeneic transplantation for genetically identical individuals.Stem Cell Transplantation: The transfer of STEM CELLS from one individual to another within the same species (TRANSPLANTATION, HOMOLOGOUS) or between species (XENOTRANSPLANTATION), or transfer within the same individual (TRANSPLANTATION, AUTOLOGOUS). The source and location of the stem cells determines their potency or pluripotency to differentiate into various cell types.Stem Cells: Relatively undifferentiated cells that retain the ability to divide and proliferate throughout postnatal life to provide progenitor cells that can differentiate into specialized cells.Graft vs Host Disease: The clinical entity characterized by anorexia, diarrhea, loss of hair, leukopenia, thrombocytopenia, growth retardation, and eventual death brought about by the GRAFT VS HOST REACTION.Transplantation Conditioning: Preparative treatment of transplant recipient with various conditioning regimens including radiation, immune sera, chemotherapy, and/or immunosuppressive agents, prior to transplantation. Transplantation conditioning is very common before bone marrow transplantation.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.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)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.Lysosomal Storage Diseases: Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.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.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)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.Internet: A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.Surgical Mesh: Any woven or knit material of open texture used in surgery for the repair, reconstruction, or substitution of tissue. The mesh is usually a synthetic fabric made of various polymers. It is occasionally made of metal.International Classification of Diseases: A system of categories to which morbid entries are assigned according to established criteria. Included is the entire range of conditions in a manageable number of categories, grouped to facilitate mortality reporting. It is produced by the World Health Organization (From ICD-10, p1). The Clinical Modifications, produced by the UNITED STATES DEPT. OF HEALTH AND HUMAN SERVICES, are larger extensions used for morbidity and general epidemiological purposes, primarily in the U.S.Polypropylenes: Propylene or propene polymers. Thermoplastics that can be extruded into fibers, films or solid forms. They are used as a copolymer in plastics, especially polyethylene. The fibers are used for fabrics, filters and surgical sutures.Health Resources: Available manpower, facilities, revenue, equipment, and supplies to produce requisite health care and services.Knowledge: The body of truths or facts accumulated in the course of time, the cumulated sum of information, its volume and nature, in any civilization, period, or country.Medical Subject Headings: Controlled vocabulary thesaurus produced by the NATIONAL LIBRARY OF MEDICINE. It consists of sets of terms naming descriptors in a hierarchical structure that permits searching at various levels of specificity.Endotoxins: Toxins closely associated with the living cytoplasm or cell wall of certain microorganisms, which do not readily diffuse into the culture medium, but are released upon lysis of the cells.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.Hydrothermal Vents: Hot springs on the ocean floor. They are commonly found near volcanically active places such as mid-oceanic ridges.Limulus Test: Sensitive method for detection of bacterial endotoxins and endotoxin-like substances that depends on the in vitro gelation of Limulus amebocyte lysate (LAL), prepared from the circulating blood (amebocytes) of the horseshoe crab, by the endotoxin or related compound. Used for detection of endotoxin in body fluids and parenteral pharmaceuticals.Pacific OceanFuraldehydeSearch Engine: Software used to locate data or information stored in machine-readable form locally or at a distance such as an INTERNET site.Databases, Genetic: Databases devoted to knowledge about specific genes and gene products.RNA Folding: The processes of RNA tertiary structure formation.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.Chondroitinsulfatases: A group of enzymes that catalyze the hydrolysis of various sulfate bonds of chondroitin sulfate. EC 3.1.6.-.Tracheal DiseasesKeratan Sulfate: A sulfated mucopolysaccharide initially isolated from bovine cornea. At least two types are known. Type I, found mostly in the cornea, contains D-galactose and D-glucosamine-6-O-sulfate as the repeating unit; type II, found in skeletal tissues, contains D-galactose and D-galactosamine-6-O-sulfate as the repeating unit.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)Syndrome: A characteristic symptom complex.Corneal Opacity: Disorder occurring in the central or peripheral area of the cornea. The usual degree of transparency becomes relatively opaque.Zellweger Syndrome: An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.Peroxisomal Disorders: A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.Microbodies: Electron-dense cytoplasmic particles bounded by a single membrane, such as PEROXISOMES; GLYOXYSOMES; and glycosomes.Peroxisomes: Microbodies which occur in animal and plant cells and in certain fungi and protozoa. They contain peroxidase, catalase, and allied enzymes. (From Singleton and Sainsbury, Dictionary of Microbiology and Molecular Biology, 2nd ed)Adrenoleukodystrophy: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).Chondrodysplasia Punctata: A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
Insights into the catalytic mechanism and the molecular basis for fucosidosis". J. Biol. Chem. 279 (13): 13119-28. doi:10.1074/ ... 6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. Alpha-L- ... Deficiency in alpha-l-fucosidase activity is associated with fucosidosis, a lysosomal storage disorder characterised by rapid ... 6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. Fucosylated ...
Defects in glycoprotein degradation Aspartylglucosaminuria Fucosidosis Mannosidosis Sialidosis (mucolipidosis I) Another type, ... The term is sometimes reserved for conditions involving degradation of glycoproteins. (E77.0) Defects in post-translational ... Glycoproteinosis are lysosomal storage diseases affecting glycoproteins, resulting from defects in lysosomal function. ... implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis". FASEB J. 18 (9): 971-3. ...
... fucosidosis MeSH C18.452.100.100.435.340 --- glycogen storage disease type ii MeSH C18.452.100.100.435.590 --- mucolipidoses ... carbohydrate-deficient glycoprotein syndrome MeSH C18.452.648.202.251 --- fructose metabolism, inborn errors MeSH C18.452. ... fucosidosis MeSH C18.452.648.151.320 --- galactosemias MeSH C18.452.648.151.330 --- glycogen storage disease type ii MeSH ... fucosidosis MeSH C18.452.648.151.435.340 --- glycogen storage disease type ii MeSH C18.452.648.151.435.590 --- mucolipidoses ...
... fucosidosis MeSH C16.320.565.150.435.340 --- glycogen storage disease type ii MeSH C16.320.565.150.435.590 --- mucolipidoses ... carbohydrate-deficient glycoprotein syndrome MeSH C16.320.565.202.251 --- fructose metabolism, inborn errors MeSH C16.320. ... fucosidosis MeSH C16.320.565.580.554.340 --- glycogen storage disease type ii MeSH C16.320.565.580.554.590 --- mucolipidoses ... fucosidosis MeSH C16.320.565.202.355 --- galactosemias MeSH C16.320.565.202.449 --- glycogen storage disease MeSH C16.320. ...
Defects in glycoprotein degradation Aspartylglucosaminuria Fucosidosis Mannosidosis Sialidosis (mucolipidosis I) (E77.8) Other ... disorders of glycoprotein metabolism (E77.9) Disorder of glycoprotein metabolism, unspecified (E78) Disorders of lipoprotein ... Disorders of glycoprotein metabolism (E77.0) Defects in post-translational modification of lysosomal enzymes Mucolipidosis II ( ...
... is one of nine identified glycoprotein storage diseases. The gene encoding the alpha-fucosidase, FUCA 1, was found ... Fucosidosis is an autosomal recessive disorder, which means that both parents have to have the mutation and pass it on to the ... Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that severely reduce or stop the ... Fucosidosis is an autosomal recessive disorder that affects many areas of the body. Mutations in the FUCA1 gene causes ...
Glycoproteins are important for white blood cell recognition.[citation needed] Examples of glycoproteins in the immune system ... Some important methods used to study glycoproteins Method Use Periodic acid-Schiff stain Detects glycoproteins as pink bands ... Monosaccharides commonly found in eukaryotic glycoproteins include:[4]:526 The principal sugars found in human glycoproteins[5] ... Glycoprotein-41 (gp41) and glycoprotein-120 (gp120) are HIV viral coat proteins. ...
Fucosidosis Sialic acid Neuraminidase Mucolipidosis Lysosomal storage disease James, William D.; Berger, Timothy G.; et al. ( ... referred to as glycoproteins), which allows the cell to function properly. Because the enzyme is deficient, small chains ...
"Mistletoe lectin I is a sialic acid-specific lectin with strict preference to gangliosides and glycoproteins with terminal ... of the fucose-binding lectin from Lotus tetragonolobus for glycopeptides and oligosaccharides accumulating in fucosidosis."; ...
... glycoprotein storage disorders (E77.0-E77.1) mucolipidoses Also, glycogen storage disease type II (Pompe disease) is also a ... Wolman disease Oligosaccharide Alpha-mannosidosis Beta-mannosidosis Aspartylglucosaminuria Fucosidosis Lysosomal transport ... glycoproteins (sugar-containing proteins), or so-called mucopolysaccharides. Individually, LSDs occur with incidences of less ...
A defective alpha-mannosidase enzyme, which normally helps to break down complex sugars derived from glycoproteins in the ...
CPS1 Carbohydrate-deficient glycoprotein syndrome, type Ib; 602579; MPI Carboxypeptidase N deficiency; 212070; CPN1 Carcinoid ... FBP1 Fucosidosis; 230000; FUCA1 Fuhrmann syndrome; 228930; WNT7A Fumarase deficiency; 606812; FH Fundus albipunctatus; 136880; ... RUNX1 Platelet glycoprotein IV deficiency; 608404; CD36 Pleuropulmonary blastoma; 601200; DICER1 Pneumothorax, primary ...
Fucosidosis; Aspartylglucosaminuria; Glycoprotein Metabolic Disorders; Sphingolipidoses; Recessive Leukodystrophies; Globoid ...
Fucosidosis; Aspartylglucosaminuria; Glycoprotein Metabolic Disorders; Sphingolipidoses; Recessive Leukodystrophies; Globoid ...
A defective alpha-mannosidase enzyme, which normally helps to break down complex sugars derived from glycoproteins in the ...
1999). Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase ... Biochemically, fucosidosis is characterized by impaired lysosomal degradation of fucosylated glycoproteins and glycolipids as ... A major biochemical hallmark of fucosidosis individuals, as a consequence of incomplete degradation of glycoproteins and ... The clinical course of our fucosidosis mouse model resembled the milder type-2 fucosidosis variant in humans and was ...
This enzyme is required to metabolize certain glycoproteins in the body. Deficiency or inactivity of this enzyme causes these ... In the past, fucosidosis was sometimes separated in type I and type II. However, researchers now believe that fucosidosis ... The symptoms of fucosidosis vary greatly even among individuals within the same family. Fucosidosis can be rapidly progressive ... The pseudogene associated with fucosidosis is called FUCA1P. Fucosidosis is inherited as an autosomal recessive trait. ...
Glycoprotein metabolic disorders:. *Alpha mannosidosis. *Fucosidosis. *Aspartylglucosaminuria. *Sphingolipidoses and Recessive ... Fucosidosis. Aspartylglucosaminuria. Niemann-Pick Disease, Type B. Disease. Pathologic Processes. Genetic Diseases, Inborn. ... Hurlers Syndrome Maroteaux-Lamy Syndrome Sly Syndrome Alpha Mannosidosis Fucosidosis Aspartylglucosaminuria Sphingolipidoses ... Fucosidosis Aspartylglycosaminuria Niemann-Pick Disease Type B Mucopolysaccharidosis Mucopolysaccharidosis Type I ...
Loss of brain cells is thought to cause the neurological symptoms of fucosidosis. Accumulation of glycolipids and glycoproteins ... Fucosidosis. At least 26 mutations in the FUCA1 gene have been found to cause fucosidosis. Most of these mutations result in an ... Fucosidosis revisited: a review of 77 patients. Am J Med Genet. 1991 Jan;38(1):111-31. Review. Citation on PubMed ... Cragg H, Williamson M, Young E, OBrien J, Alhadeff J, Fang-Kircher S, Paschke E, Winchester B. Fucosidosis: genetic and ...
Fucosidosis is one of nine identified glycoprotein storage diseases. The gene encoding the alpha-fucosidase, FUCA 1, was found ... Fucosidosis is an autosomal recessive disorder, which means that both parents have to have the mutation and pass it on to the ... Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that severely reduce or stop the ... Fucosidosis is an autosomal recessive disorder that affects many areas of the body. Mutations in the FUCA1 gene causes ...
Fucosidosis is a condition that affects many areas of the body, especially the brain. Explore symptoms, inheritance, genetics ... Loss of brain cells is thought to cause the neurological symptoms of fucosidosis. Accumulation of glycolipids and glycoproteins ... Mutations in the FUCA1 gene cause fucosidosis. The FUCA1 gene provides instructions for making an enzyme called alpha-L- ... Phenotypic spectrum of fucosidosis in Tunisia. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S313-6. doi: 10.1007/s10545-008-0891-0 ...
Disorders of glycoprotein degradation: alpha-mannosidosis, beta-mannosidosis, fucosidosis, and sialidosis. The Metabolic & ...
Disorders of glycoprotein degradation: alpha-mannosidosis, beta-mannosidosis, fucosidosis, and sialidosis. The Metabolic & ...
GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor ... Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and ... Fucosidosis: An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting ... Fucosidosis Type 1s; Infantile Fucosidosis; Juvenile Fucosidosis; Type 1, Fucosidosis; Type 1s, Fucosidosis; alpha Fucosidase ...
... glycoproteins, glycolipids, glycosaminoglycans) in cell lysosomes. Defect in the activity of suitable lysosomal exoglycosidase ... Fucosidosis is characterized by lysosomal storage of glycoproteins, glycolipids, and oligosaccharides containing fucose ... glycoproteins, glycolipids, and glycosaminoglycans). HEX is a glycoprotein composed of two (α and β) subunits. HEX subunits ... Fucosidosis may be confirmed by the decrease in α-L-fucosidase activity, in fibroblasts or leukocytes of suspected persons [35 ...
Glycoprotein. Mucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha- ...
Glycoprotein. Mucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha- ...
Defects in FUCA1 are the cause of fucosidosis (FUCA1D) [MIM:230000]. FUCA1D is an autosomal recessive lysosomal storage disease ... 6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. ... characterized by accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical signs include ...
Fucosidosis: four new mutations and a new polymorphism. (PMID: 8504303) Seo H.-C. … OBrien J.S. (Hum. Mol. Genet. 1993) 3 4 22 ... The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and ... Spectrum of mutations in fucosidosis. (PMID: 10094192) Willems P.J. … OBrien J.S. (Eur. J. Hum. Genet. 1999) 3 4 22 64 ... Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family. (PMID: 8399358) Yang M. … Dicioccio R.A. ( ...
Fucosidosis. Fucosidosis is a rare autosomal recessive disorder characterized by deficiency of the lysosomal enzyme alpha-L- ... ß-galactosidase hydrolyses the ß-galactosyl residue from GM1 ganglioside, glycoproteins, and glycosaminoglycans. Deficiency of ... Fucosidosis results in progressive neurological deterioration, skin abnormalities, delayed growth, skeletal disease and ... The symptoms and severity of fucosidosis are highly variable and the disorder represents a disease spectrum in which ...
10/08/1999 - "Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N- ... Glycoproteins (Glycoprotein)IBA 09/01/1991 - "beta-Mannosidosis, an inherited defect of glycoprotein catabolism previously ... 08/20/1993 - "Since myelin-associated glycoprotein (MAG) is glycosylated and its metabolism could be directly affected in this ... 01/01/1984 - "Caprine beta-mannosidosis, an autosomal recessive disorder of glycoprotein catabolism, as yet undetected in man, ...
Glycoprotein. Mucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha- ... Aspartylglucosaminuria is a glycoprotein metabolism disorder caused by a lack of aspartylglucosaminidase (AGA). ... Fucosidosis ... The defective gene lies on chromosome 7. ... A glycoprotein is a macromolecule composed of a protein and a carbohydrate (an ...
Insights into the catalytic mechanism and the molecular basis for fucosidosis". J. Biol. Chem. 279 (13): 13119-28. doi:10.1074/ ... 6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. Alpha-L- ... Deficiency in alpha-l-fucosidase activity is associated with fucosidosis, a lysosomal storage disorder characterised by rapid ... 6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. Fucosylated ...
The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and ... Mutations in this gene are associated with fucosidosis (FUCA1D) which is an autosomal recessive lysosomal storage disease. A ...
Fucosidosis; Aspartylglucosaminuria; Glycoprotein Metabolic Disorders; Sphingolipidoses; Recessive Leukodystrophies; Globoid ...
... disorder caused by deficient α-1-fucosidase activity leading to accumulation of fucose-containing glycolipids and glycoproteins ... Conference Paper: Leukodystrophy in a Chinese boy: a novel FUCA1 mutation causing Fucosidosis (Case Report). *Show simple item ... Fucosidosis is a autosomal recessive neurodegenerative condition. It is a lysosomal storage disorder caused by deficient α-1- ... Fucosidosis is a autosomal recessive neurodegenerative condition. It is a lysosomal storage ...
Alpha-L-fucosidase (EC 3.2.1.51) is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and ... which is deficient in fucosidosis (MIM 230000), and that in plasma, FUCA2 (MIM 136820).[supplied by OMIM]. ...
  • A defective alpha-mannosidase enzyme, which normally helps to break down complex sugars derived from glycoproteins in the lysosome , causes progressive lysosomal accumulation of mannose-rich oligosaccharides in all tissues, resulting in impaired cellular function and apoptosis (Figure 2). (wikipedia.org)
  • Fucosidosis is a very rare lysosomal storage disease and though the incidence worldwide is not known with any certainty, it is estimated to affect less than 1:2,000,000. (ismrd.org)
  • On the basis of the clinical course, fucosidosis has been divided into a severe infantile fast-progressing form (type 1) and a milder form (type 2), although the disease often presents with a continuum of an entire set of clinical features. (biologists.org)
  • Individuals with severe cases of fucosidosis can develop life-threatening complications early in childhood. (rarediseases.org)
  • Fucosidosis can be rapidly progressive causing severe, life-threatening complications in children or develop during adolescence and progress more slowly eventually causing serious complications in adulthood. (rarediseases.org)
  • Cases labeled fucosidosis type I (early onset, rapid progression) represent the severe end of the spectrum and those labeled fucosidosis type II represent the mild end. (rarediseases.org)
  • Severe fucosidosis often progresses to cause life-threatening neurodegenerative complications and/or severe, progressive loss of weight and muscle mass (cachexia), usually within the first few years of life. (rarediseases.org)
  • Less common findings associated with severe forms of fucosidosis include abnormally enlarged internal organs (visceromegaly), such as the liver and spleen (hepatosplenomegaly) or heart (cardiomegaly), seizures, hearing loss, abnormal curvature of the spine (kyphoscoliosis), and repeated respiratory infections. (rarediseases.org)
  • Severe and mild subgroups of fucosidosis, designated types I and II, have been described, although recent data suggests individual patients may represent a continuum within a wide spectrum of severity. (testcatalog.org)
  • In the severe GT of type I this amount of glycoprotein is less than 5% of the normal value. (labogen.com)
  • While sialic acid exists in free form, or as a part of relatively small heterosaccharide molecules, the major portion of naturally occurring sialic acid is present as a constituent of either glycoproteins or gangliosides. (springer.com)
  • N-linked protein glycosylation (N-glycosylation of N-glycans) at Asn residues (Asn-x-Ser/Thr motifs) in glycoproteins. (wikipedia.org)
  • Values below 0.32 nmol/min/mg protein are consistent with a diagnosis of fucosidosis. (testcatalog.org)
  • Scientists discovered that these dogs lack a protein (P-Glycoprotein), which is responsible for pumping out many drugs and toxins from the brain, and that affected dogs show signs of toxicity because they are unable to stop drugs from permeating their brains. (laboklin.co.uk)
  • Our results demonstrate that this new fucosidosis mouse model resembles the human disease and thus will help to unravel underlying pathological processes. (biologists.org)
  • Fucosidosis results in progressive neurological deterioration, skin abnormalities, growth retardation, skeletal disease and coarsening of facial features. (rarediseases.org)
  • However, researchers now believe that fucosidosis represents a disease spectrum with a wide variety of expression. (rarediseases.org)
  • Because the major accumulating glycoconjugate in fucosidosis patients is the blood group H-antigen, it is intriguing to speculate, but the evidence is not clear at this time, that blood type may affect the course of the disease. (wikipedia.org)
  • Fucosidosis is a lysosomal storage disease that affects many areas of the body, especially the brain. (cdc.gov)
  • The most noticeable feature distinguishing fucosidosis type 1 from type 2 is the appearance of angiokeratomas on the skin around 10 years of age in those individuals with type-2 disease. (ai-online.info)
  • Patients usually have some problems with glycoprotein storage in the brain and other organs, and some structural abnormalities that need special consideration in anesthesia. (bvsalud.org)