Dictionaries, MedicalDictionaries as Topic: Lists of words, usually in alphabetical order, giving information about form, pronunciation, etymology, grammar, and meaning.Dictionaries, ChemicalTerminology as Topic: The terms, expressions, designations, or symbols used in a particular science, discipline, or specialized subject area.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.Genetics, Medical: A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents.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)Polymorphism, Single-Stranded Conformational: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.Native Polyacrylamide Gel Electrophoresis: Polyacrylamide gel electrophoresis under conditions in which the components, such as PROTEINS, being separated can remain in their naturally folded state.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Carbohydrate Metabolism, Inborn ErrorsLysosomal Storage Diseases: Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.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.Trimecaine: Acetanilide derivative used as a local anesthetic.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.FucoseAnesthesia, Intratrachealalpha-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.DisaccharidasesMedlinePlus: NATIONAL LIBRARY OF MEDICINE service for health professionals and consumers. It links extensive information from the National Institutes of Health and other reviewed sources of information on specific diseases and conditions.Glycolipids: Any compound containing one or more monosaccharide residues bound by a glycosidic linkage to a hydrophobic moiety such as an acylglycerol (see GLYCERIDES), a sphingoid, a ceramide (CERAMIDES) (N-acylsphingoid) or a prenyl phosphate. (From IUPAC's webpage)Hydrothermal Vents: Hot springs on the ocean floor. They are commonly found near volcanically active places such as mid-oceanic ridges.Glycoproteins: Conjugated protein-carbohydrate compounds including mucins, mucoid, and amyloid glycoproteins.United States Social Security Administration: An independent agency within the Executive Branch of the United States Government. It administers a national social insurance program whereby employees, employers, and the self-employed pay contributions into pooled trust funds. Part of the contributions go into a separate hospital insurance trust fund for workers at age 65 to provide help with medical expenses. Other programs include the supplemental social security income program for the aged, blind, and disabled and the Old Age Survivors and Disability Insurance Program. It became an independent agency March 31, 1995. It had previously been part of the Department of Health, Education, and Welfare, later the Department of Health and Human Services. (From United States Government Manual, 1994-95)Social Security: Government sponsored social insurance programs.Insurance, Disability: Insurance designed to compensate persons who lose wages because of illness or injury; insurance providing periodic payments that partially replace lost wages, salary, or other income when the insured is unable to work because of illness, injury, or disease. Individual and group disability insurance are two types of such coverage. (From Facts on File Dictionary of Health Care Management, 1988, p207)Veterans Disability Claims: Disorders claimed as a result of military service.United StatesSecurity Measures: Regulations to assure protection of property and equipment.Computer Security: Protective measures against unauthorized access to or interference with computer operating systems, telecommunications, or data structures, especially the modification, deletion, destruction, or release of data in computers. It includes methods of forestalling interference by computer viruses or so-called computer hackers aiming to compromise stored data.Disabled Persons: Persons with physical or mental disabilities that affect or limit their activities of daily living and that may require special accommodations.Social Behavior: Any behavior caused by or affecting another individual, usually of the same species.Disability Evaluation: Determination of the degree of a physical, mental, or emotional handicap. The diagnosis is applied to legal qualification for benefits and income under disability insurance and to eligibility for Social Security and workmen's compensation benefits.FuraldehydeSearch 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.Pacific OceanGenome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.Presenilin-1: Integral membrane protein of Golgi and endoplasmic reticulum. Its homodimer is an essential component of the gamma-secretase complex that catalyzes the cleavage of membrane proteins such as NOTCH RECEPTORS and AMYLOID BETA-PEPTIDES precursors. PSEN1 mutations cause early-onset ALZHEIMER DISEASE type 3 that may occur as early as 30 years of age in humans.Alzheimer Disease: A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)Age of Onset: The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.Placenta: A highly vascularized mammalian fetal-maternal organ and major site of transport of oxygen, nutrients, and fetal waste products. It includes a fetal portion (CHORIONIC VILLI) derived from TROPHOBLASTS and a maternal portion (DECIDUA) derived from the uterine ENDOMETRIUM. The placenta produces an array of steroid, protein and peptide hormones (PLACENTAL HORMONES).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.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.Transplantation, Homologous: Transplantation between individuals of the same species. Usually refers to genetically disparate individuals in contradistinction to isogeneic transplantation for genetically identical individuals.Transplantation, Autologous: Transplantation of an individual's own tissue from one site to another site.Umbilical Cord: The flexible rope-like structure that connects a developing FETUS to the PLACENTA in mammals. The cord contains blood vessels which carry oxygen and nutrients from the mother to the fetus and waste products away from the fetus.Peripheral Blood Stem Cell Transplantation: Transplantation of stem cells collected from the peripheral blood. It is a less invasive alternative to direct marrow harvesting of hematopoietic stem cells. Enrichment of stem cells in peripheral blood can be achieved by inducing mobilization of stem cells from the BONE MARROW.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.Hematopoietic Stem Cells: Progenitor cells from which all blood cells derive.

Spectrum of mutations in fucosidosis. (1/22)

Fucosidosis is a lysosomal storage disorder characterised by progressive psychomotor deterioration, angiokeratoma and growth retardation. It is due to deficient alpha-l-fucosidase activity leading to accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Fucosidosis is extremely rare with less than 100 patients reported worldwide, although the disease occurs at a higher rate in Italy, in the Hispanic-American population of New Mexico and Colorado, and in Cuba. We present here a review study of the mutational spectrum of fucosidosis. Exon by exon mutation analysis of FUCA1, the structural gene of alpha-l-fucosidase, has identified the mutation(s) in nearly all fucosidosis patients investigated. The spectrum of the 22 mutations detected to date includes four missense mutations, 17 nonsense mutations consisting of seven stop codon mutations, six small deletions, two large deletions, one duplication, one small insertion and one splice site mutation. All these mutations lead to nearly absent enzymatic activity and severely reduced cross-reacting immunomaterial. The observed clinical variability is, therefore, not due to the nature of the fucosidosis mutation, but to secondary unknown factors.  (+info)

Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. (2/22)

Glycoproteinoses belong to the lysosomal storage disorders group. The common feature of these diseases is the deficiency of a lysosomal protein that is part of glycan catabolism. Most of the lysosomal enzymes involved in the hydrolysis of glycoprotein carbohydrate chains are exo-glycosidases, which stepwise remove terminal monosaccharides. Thus, the deficiency of a single enzyme causes the blockage of the entire pathway and induces a storage of incompletely degraded substances inside the lysosome. Different mutations may be observed in a single disease and in all cases account for the nonexpression of lysosomal glycosidase activity. Different clinical phenotypes generally characterize a specific disorder, which rather must be described as a continuum in severity, suggesting that other biochemical or environmental factors influence the course of the disease. This review provides details on clinical features, genotype-phenotype correlations, enzymology and biochemical storage of four human glycoprotein lysosomal storage disorders, respectively alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. Moreover, several animal disorders of glycoprotein metabolism have been found and constitute valuable models for the understanding of their human counterparts.  (+info)

MR brain imaging of fucosidosis type I. (3/22)

SUMMARY: Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and growth retardation. Fucosidosis type I rapidly evolves toward a progressive neurologic deterioration and death. We report MR imaging findings of the brain of three patients with fucosidosis type I, including previously unreported findings, to expand the knowledge of the neuroradiologic spectrum of the disease.  (+info)

Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation. (4/22)

Fucosidosis is a rare autosomal recessive lysosomal disorder caused by alpha-fucosidase deficiency. We report a child with fucosidosis, second daughter of non-consanguineous parents, for whom biochemical diagnosis followed clinical evidence of the disease in her older sister. Based on previous experiences, the indication to transplant was considered. Since she lacked a matched sibling, an unrelated marrow donor was found. At pre-hematopoietic stem cell transplantation evaluation, first signs of neurological involvement were clinically detectable. MRI showed diffuse hypomyelination and auditory brainstem responses and somatic-sensorial evoked potentials were altered. Visual evoked potentials were normal, tortuosity in the retinal veins and peripapillary hemorrhages were detected. Bone marrow transplantation conditioning was with a regimen of busulphan, thiotepa and cyclophosphamide; in vivo Campath 1G, cyclosporin A and short course methotrexate were given to prevent graft-versus-host disease. The patient engrafted rapidly and her post-transplant course was complicated by moderate graft-versus-host disease, transient episodes of idiopathic thrombocytopenic purpura, repeated septic complications and recurrent episodes of Sweet's syndrome. Sequential short tandem repeat polymorphisms on peripheral blood and bone marrow cells documented the persistence of donor engraftment. Follow-up showed a progressive rise of enzymatic levels. Psychomotor development improved, as confirmed by evaluation of evoked potentials and by MRI scanning.  (+info)

Crystal structure of Thermotoga maritima alpha-L-fucosidase. Insights into the catalytic mechanism and the molecular basis for fucosidosis. (5/22)

Fucosylated glycoconjugates are involved in numerous biological events, and alpha-l-fucosidases, the enzymes responsible for their processing, are therefore of crucial importance. Deficiency in alpha-l-fucosidase activity is associated with fucosidosis, a lysosomal storage disorder characterized by rapid neurodegeneration, resulting in severe mental and motor deterioration. To gain insight into alpha-l-fucosidase function at the molecular level, we have determined the crystal structure of Thermotoga maritima alpha-l-fucosidase. This enzyme assembles as a hexamer and displays a two-domain fold, composed of a catalytic (beta/alpha)(8)-like domain and a C-terminal beta-sandwich domain. The structures of an enzyme-product complex and of a covalent glycosyl-enzyme intermediate, coupled with kinetic and mutagenesis studies, allowed us to identify the catalytic nucleophile, Asp(244), and the Bronsted acid/base, Glu(266). Because T. maritima alpha-l-fucosidase occupies a unique evolutionary position, being far more closely related to the mammalian enzymes than to any other prokaryotic homolog, a structural model of the human enzyme was built to document the structural consequences of the genetic mutations associated with fucosidosis.  (+info)

Fucosidosis with hypothyroidism: a case report. (6/22)

Fucosidosis is a rare, autosomal recessive lysosomal storage disorder caused by a severe deficiency of alpha-L-fucosidase. Here we present a 27-month-old male who was referred to us for evaluation of developmental delay, which was first detected at age six months. His past medical history was also remarkable for recurrent pulmonary infections and myoclonic seiures. His family history revealed that he was the first living child from a consanguineous marriage. He had a younger sister who died at five months of age from pneumonia who had facial resemblance to the proband, developmental delay and a congenital heart defect. Physical examination revealed length: 81 cm (25-50p), weight: 10.2 kg (25-50p), and head circumference: 49 cm (50-75p). He had a coarse face, hepatomegaly and generalized spasticity. His initial laboratory examination revealed negative urine screening column chromatography for mucopolysaccharidosis. His X-ray findings were consistent with mild form of dysostosis multiplex. Based on clinical and laboratory features, fucosidosis was suspected. Fucosidase enzyme activity was zero. In addition to fucosidosis, thyroid function tests indicated primary hypothyroidism. This is, to the best of our knowledge, the fourth case of fucosidosis diagnosed in Turkey.  (+info)

Characterization and 400-MHz 1H-NMR analysis of urinary fucosyl glycoasparagines in fucosidosis. (7/22)

Fucosyl glycoasparagines accumulating in the urine of a patient with fucosidosis were isolated using reverse-phase HPLC. Structural analysis of 25 glycoasparagines was carried out by combination of methylation and 400-MHz 1H-NMR spectroscopy analyses. The compounds represent different steps in the incomplete catabolism of N-glycosidically linked glycans, as the result of an alpha-L-fucosidase deficiency. All of the glycoasparagines possess a fucose residue alpha-1,6-linked to the GlcNAc 1 residue attached to asparagine. Fucose residues on the peripheral branches were linked either alpha-1,3 to GlcNAc residues (X determinant) or alpha-1,2 to galactose residues (H determinant). The present study allows precise assignments of the NMR parameters for most of the fucosyl linkages occurring in N-glycosidically linked glycans of the N-acetyllactosamine type.  (+info)

Distribution of saposin proteins (sphingolipid activator proteins) in lysosomal storage and other diseases. (8/22)

Saposins (A, B, C, and D) are small glycoproteins required for the hydrolysis of sphingolipids by specific lysosomal hydrolases. Concentrations of these saposins in brain, liver, and spleen from normal humans as well as patients with lysosomal storage disease were determined. A quantitative HPLC method was used for saposin A, C, and D and a stimulation assay was used for saposin B. In normal tissues, saposin D was the most abundant of the four saposins. Massive accumulations of saposins, especially saposin A (about 80-fold increase over normal), were found in brain of patients with Tay-Sachs disease or infantile Sandhoff disease. In spleen of adult patients with Gaucher disease, saposin A and D accumulations (60- and 17-fold, respectively, over normal) were higher than that of saposin C (about 16-fold over normal). Similar massive accumulations of saposins A and D were found in liver of patients with fucosidosis (about 70- and 20-fold, respectively, over normal). Saposin D was the primary saposin stored in the liver of a patient with Niemann-Pick disease (about 30-fold over normal). Moderate increases of saposins B and D were found in a patient with GM1 gangliosidosis. Normal or near normal levels of all saposins were found in patients with Krabbe disease, metachromatic leukodystrophy, Fabry disease, adrenoleukodystrophy, I-cell disease, mucopolysaccharidosis types 2 and 3B, or Jansky-Bielschowsky disease. The implications of the storage of saposins in these diseases are discussed.  (+info)

*Lysosomal storage disease

Wolman disease Oligosaccharide Alpha-mannosidosis Beta-mannosidosis Aspartylglucosaminuria Fucosidosis Lysosomal transport ...

*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 one of nine identified glycoprotein storage diseases. The gene encoding the alpha-fucosidase, FUCA 1, was found ...

*List of OMIM disorder codes

FBP1 Fucosidosis; 230000; FUCA1 Fuhrmann syndrome; 228930; WNT7A Fumarase deficiency; 606812; FH Fundus albipunctatus; 136880; ...

*Fucosidase

1991). "Fucosidosis revisited: a review of 77 patients". Am. J. Med. Genet. 38 (1): 111-31. doi:10.1002/ajmg.1320380125. PMID ... Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of ... Yang M, Allen H, DiCioccio RA (1993). "A mutation generating a stop codon in the alpha-L-fucosidase gene of a fucosidosis ... Kretz KA, Darby JK, Willems PJ, O'Brien JS (1990). "Characterization of EcoRI mutation in fucosidosis patients: a stop codon in ...

*Alpha-L-fucosidase

Deficiency of this enzyme is called Fucosidosis. In CAZy, alpha-L-fucosidases are found in glycoside hydrolase family 29 and ...

*Rosenthal fiber

They are also seen in the context of fucosidosis. Pilocytic astrocytoma is the most common primitive tumor in pediatric ...

*Glycoside hydrolase family 29

Insights into the catalytic mechanism and the molecular basis for fucosidosis". J. Biol. Chem. 279 (13): 13119-28. doi:10.1074/ ... Deficiency in alpha-l-fucosidase activity is associated with fucosidosis, a lysosomal storage disorder characterised by rapid ...

*FUCA2

1988). "Molecular biology of the alpha-L-fucosidase gene and fucosidosis". Enzyme. 38 (1-4): 45-53. PMID 2894306. Cordero OJ, ...

*Sialidosis

Fucosidosis Sialic acid Neuraminidase Mucolipidosis Lysosomal storage disease James, William D.; Berger, Timothy G.; et al. ( ...

*Lipid storage disorder

Other lipid storage disorders that are generally not classified as sphingolipidoses include fucosidosis, Schindler disease and ...

*Macroglossia

... fucosidosis,[medical citation needed] alpha-mannosidosis, Klippel-Trenaunay-Weber syndrome, cardiofaciocutaneous syndrome, Ras ...

*Glycoproteinosis

Defects in glycoprotein degradation Aspartylglucosaminuria Fucosidosis Mannosidosis Sialidosis (mucolipidosis I) Another type, ...

*List of MeSH codes (C10)

... fucosidosis MeSH C10.228.140.163.100.435.340 --- glycogen storage disease type ii MeSH C10.228.140.163.100.435.590 --- ...

*List of MeSH codes (C18)

... fucosidosis MeSH C18.452.100.100.435.340 --- glycogen storage disease type ii MeSH C18.452.100.100.435.590 --- mucolipidoses ... 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 C18.452.648.595.554.340 --- glycogen storage disease type ii MeSH C18.452.648.595.554.590 --- mucolipidoses ...

*List of MeSH codes (C16)

... fucosidosis MeSH C16.320.565.150.435.340 --- glycogen storage disease type ii MeSH C16.320.565.150.435.590 --- mucolipidoses ... 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. ...

*List of conditions treated with hematopoietic stem cell transplantation

Fucosidosis Aspartylglucosaminuria Alpha-mannosidosis Other Wolman disease (acid lipase deficiency) Immunodeficiencies T-cell ...

*ICD-10 Chapter IV: Endocrine, nutritional and metabolic diseases

Defects in glycoprotein degradation Aspartylglucosaminuria Fucosidosis Mannosidosis Sialidosis (mucolipidosis I) (E77.8) Other ...

*Coarse facial features

Dyggve-Melchior-Clausen Syndrome Fucosidosis type 1 Fucosidosis type II Gangliosidosis generalized GM1 (type 1) Gangliosidosis ...

*List of cutaneous conditions

Fucosidosis Gaucher's disease Gout (podagra, urate crystal arthropathy, urate deposition disease) Hartnup disease (pellagra- ...

*List of diseases (F)

... syndrome Fryns-Fabry-Remans syndrome Fryns-Hofkens-Fabry syndrome Fryns-Smeets-Thiry syndrome Fucosidosis type 1 Fucosidosis ...
Fucosidosis is a rare lysosomal storage disorder caused by the inherited deficiency of the lysosomal hydrolase α-L-fucosidase, which leads to an impaired degradation of fucosylated glycoconjugates. Here we report the generation of a fucosidosis mouse model, in which the gene for lysosomal α-L-fucosidase (Fuca1) was disrupted by gene targeting. Homozygous knock-out mice completely lack α-L-fucosidase activity in all tested organs leading to highly elevated amounts of the core-fucosylated glycoasparagine Fuc(α1,6)-GlcNAc(β1-N)-Asn and, to a lesser extent, other fucosylated glycoasparagines, which all were also partially excreted with the urine. Lysosomal storage pathology was observed in many visceral organs like liver, kidney, spleen and bladder as well as in the CNS. On the cellular level storage was characterized by membrane-limited cytoplasmic vacuoles primarily containing water-soluble storage material. In the CNS cellular alterations included enlargement of the lysosomal compartment in ...
The molecular basis of the deficiency of alpha-L-fucosidase has been investigated in eight patients who had been diagnosed clinically and enzymatically as suffering from the autosomal recessive lysosomal storage disease fucosidosis. None of the patients had a deletion or gross alteration of the alpha-L-fucosidase gene (FUCA1). Single strand conformation polymorphism (SSCP) analysis followed by direct sequencing of amplified exons and flanking regions identified putative disease causing mutations in six of the patients, who had severe forms of the disease and very low residual alpha-L-fucosidase activity and protein. They were a 10 bp deletion in exon 1 (E113fs), a 1 bp deletion at position -2 of intron 2 (S216fs), a g--,a transition at IVS5+1, point mutations W183X and N329Y in exons 3 and 6, respectively, and a compound allele consisting of a point mutation in the signal peptide in exon 1, P5R, and a 1 bp insertion in exon 6 (Y330fs). One patient in whom an SSCP change was not detected had ...
1ODU: Crystal Structure of Thermotoga Maritima {Alpha}-L-Fucosidase: Insights Into the Catalytic Mechanism and the Molecular Basis for Fucosidosis
α-L-fucosidase (EC 3.2.1.51) [1] is a lysosomal enzyme responsible for hydrolyzing the α-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. Deficiency of α-L-fucosidase results in the lysosomal storage disease fucosidosis. A cysteine residue is important for the activity of the enzyme. There is only one cysteine conserved between the sequence of mammalian α-L-fucosidase and that of the slime mold Dictyostelium discoideum. We have derived a pattern from the region around that conserved cysteine. Note: These proteins belong to family 29 in the classification of glycosyl hydrolases [2,E1]. Last update: May 2004 / Text revised. ...
To further assess the subcellular localization of the ER-retained mutants, Endo H sensitivity and resistance in vitro assays on the expressed proteins were carried out. Frizzled family receptor 4 protein has two potential N-glycosylation sites in its extracellular domain (Fig. 1, arrows). The principle of this assay is that the carbohydrate moieties of the ER-localized glycoproteins are cleavable by Endo H, whereas the post-ER species are resistant due because of further remodeling of their N-glycans in the Golgi complex. Endo H cleaves after the first asparagine-linked N-acetylglucosamine (N-glycan) of high-mannose and hybrid polysaccharides. Therefore, one can expect that the mutants retained in the ER will have their N-glycans cleaved when treated with Endo H. Proteins that have reached the Golgi complex would be resistant to Endo H treatment. Upon Endo H treatment, P33S, G36N, H69Y, M105V, M105T, C204Y, and C204R mutants showed complete conversion of the high-molecular-weight band into a ...
GM2-gangliosidosis 1 (GM2G1) [MIM:272800]: An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. It exists in several forms: infantile (most common and most severe), juvenile and adult (late-onset). {ECO:0000269,PubMed:1301189, ECO:0000269,PubMed:1301190, ECO:0000269,PubMed:1302612, ECO:0000269,PubMed:14566483, ECO:0000269,PubMed:1532289, ECO:0000269,PubMed:1837283, ECO:0000269,PubMed:2140574, ECO:0000269,PubMed:2144098, ECO:0000269,PubMed:22723944, ECO:0000269,PubMed:2522679, ECO:0000269,PubMed:27682588, ECO:0000269,PubMed:2970528, ECO:0000269,PubMed:7717398, ECO:0000269,PubMed:7837766, ECO:0000269,PubMed:7898712, ECO:0000269,PubMed:7951261, ECO:0000269,PubMed:8445615, ECO:0000269,PubMed:8490625, ECO:0000269,PubMed:8581357, ECO:0000269,PubMed:8757036, ...
Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]: A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. {ECO:0000269,PubMed:16960811, ECO:0000269,PubMed:17033958, ECO:0000269,PubMed:17397050, ECO:0000269,PubMed:18024218, ECO:0000269,PubMed:19479962, ECO:0000269,PubMed:19823584, ECO:0000269,PubMed:20583299, ECO:0000269,PubMed:20825431}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
At least 26 mutations in the FUCA1 gene have been found to cause fucosidosis. Most of these mutations result in an abnormally short, nonfunctional alpha-L-fucosidase enzyme. Without this enzyme, glycolipids and glycoproteins cannot be completely broken down. These partially broken down compounds accumulate in the lysosomes and cause cells throughout the body to malfunction. Brain cells are particularly sensitive to the buildup of glycolipids and glycoproteins, which can result in cell death. Loss of brain cells is thought to cause the neurological symptoms of fucosidosis. Accumulation of glycolipids and glycoproteins also occurs in other organs such as the liver, spleen, skin, heart, pancreas, and kidneys, contributing to the additional symptoms of fucosidosis. ...
Coarse facial features or "coarse facies" describes a constellation of facial features that are present in many inborn errors of metabolism. Features include: large, bulging head prominent scalp veins "saddle-like, flat bridged nose with broad, fleshy tip" large lips and tongue small, widely spaced and/or malformed teeth hypertrophic alveolar ridges and/or gums Heads tend to be longer than normal from front to back, with a bulging forehead. This is because of the earlier than normal or premature fusion of skull bones in an affected individual. Several conditions are associated with coarse facial features. Acromegaly Alpha-mannosidosis type II Aspartylglycosaminuria Battaglia Neri syndrome Borjeson Syndrome Chromosome 6q deletion syndrome Coarse face - hypotonia - constipation Congenital hypothyroidism Dandy-Walker malformation (with mental retardation basal ganglia disease and seizures) Dyggve-Melchior-Clausen Syndrome Fucosidosis type 1 Fucosidosis type II Gangliosidosis generalized GM1 (type ...
Mucopolysaccharidosis like inherited storage disorders. Four have been identified so far: muramidase deficiency (ML I), I cell disease (ML II), pseudo Hurler polydystrophy (ML III), and sialicosis (ML IV, also called fucosidosis). Abbreviated ML
α-Mannosidosis (MIM 248500) is an autosomal recessive lysosomal storage disorder resulting from deficient activity of lysosomal α-mannosidase (LAMAN) (EC 3.2.1.24). The disease is characterized by massive intracellular accumulation of mannose-rich oligosaccharides with resulting mental retardation, hearing loss, immune deficiency and skeletal changes. We report here the purification and characterization of human placenta LAMAN. The enzyme is synthesized as a single-chain precursor which is processed into three glycopeptides of 70, 42 and 15 kDa. The 70 kDa peptide is further partially proteolysed into three more peptides that are joined by disulfide bridges. The laman cDNA sequence was assembled from overlapping fragments obtained by PCR on human fibroblast and human lung cDNA. The deduced amino acid sequence contains a putative signal peptide of 48 amino acids followed by a polypeptide sequence of 962 amino acids. Northern blot analyses revealed a single transcript of ∼3.5 kb present in all ...
Acid sphingomyelinase (ASM)-deficient Niemann-Pick disease is an autosomal recessive lysosomal storage disorder caused by biallelic mutations in the SMPD1 gene. To date, around 185 mutations have been reported in patients with ASM-deficient NPD world-wide, but the mutation spectrum of this disease in India has not yet been reported. The aim of this study was to ascertain the mutation profile in Indian patients with ASM-deficient NPD. We sequenced SMPD1 in 60 unrelated families affected with ASM-deficient NPD. A total of 45 distinct pathogenic sequence variants were found, of which 14 were known and 31 were novel. The variants included 30 missense, 4 nonsense, and 9 frameshift (7 single base deletions and 2 single base insertions) mutations, 1 indel, and 1 intronic duplication. The pathogenicity of the novel mutations was inferred with the help of the mutation prediction software MutationTaster, SIFT, Polyphen-2, PROVEAN, and HANSA. The effects of the identified sequence variants on the protein ...
Gaucher disease is an inherited autosomal recessive lysosomal storage disorder caused by the defective activity of the glucocerebrosidase, leading to accumulation of glucocerebroside particularly in cells of the macrophage lineage. Clinical manifestations associate hematological, neurological and bone disorders.. In this project, the investigators aimed to study the cellular and molecular mechanisms governing the biology of various cell populations of the bone marrow and blood in these patients in order to define their potential role in the physiopathology of the disease. The main research topics the investigators plan will then be focused on characterization and functional analysis of hematopoietic stem cells, mesenchymal stem cells (with a special focus on osteogenic differentiation), macrophages and osteoclastic differentiation, B lymphocytes and plasma cells. ...
Gaucher disease (GD) is another prevalent autosomal recessive lysosomal storage disorder that is found with higher incidence in the Ashkenazi Jewish
BGLR_HUMAN] Defects in GUSB are the cause of mucopolysaccharidosis type 7 (MPS7) [MIM:253220]; also known as Sly syndrome. MPS7 is an autosomal recessive lysosomal storage disease characterized by inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment.[1] [2] [3] [4] [5] [6] [7] [8] [9] [10] [11] [12] [13] Note=Mucopolysaccharidosis type 7 is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders. ...
Alpha-Fucosidase enzymes release non-reducing terminal linked fucose from N and O-glycans. These products may be used in the sequence analysis of N-glycans as w
Alpha-l-fucosidase (AFU) plays vital roles in some physiological processes that closely relate to several diseases. Herein, a ratiometric fluorescent probe for the alpha-l-fucosidase (AFU) assay based on a single fluorophore has been developed by functionalizing a new fluorophore platform (6-bromo-anthracene MCF Editors Recommendation
Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins.
Complete information for FUCA1 gene (Protein Coding), Fucosidase, Alpha-L- 1, Tissue, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Creative Biogene offers challenging job opportunities for people looking for career growth in an entrepreneurial environment that recognizes individual contributions ...
Albinism, ocular 345 Albinotic sensorineural deafness 438 Alexander disease 335 Allodynia 190 Alpha fucosidosis 427 Alpha glucosidosis 427 Alpha iduronidase 427 Alpha mannosidase 427 Alpha melanotropism 484 Alsatian-idiopathic epilepsy 458 Alternative anticonvulsant drugs 466 American Bulldog-Ceroid lipofuscinosis 385, 428 American Miniature Horse-Narcolepsy 470 American StaffordshireTerrier-Cerebellar cortical abiotrophy 367 Amikacin 329 Aminocaproic acid 262 Aminoglycoside antibiotics 329, 439 Amprolium toxicity 421 Ampulla 320 Amygdala 195, 448, 484 Amyotrophic lateral sclerosis (ALS) 102 Analgesia 234, 236 Anatomic diagnosis 487 Anencephaly 39 Angus-Cerebellar cortical abiotrophy 375 Mannosidosis 427 Anhydrosis 175 Anisocoria 169, 360 Anorexia 484 Anosmia 445 Anticonvulsant drugs 466 Antidiuretic hormone 483 Aortic thromboembolism 155 Aperture-lateral 24, 30, 56 Aplasia-Cerebral (telencephalon) 39 Spinal cord-Segmental 50 Apoptosis 27 Appetite control 484 Aqueduct-Mesencephalic 23, 32 ...
For further information read more below or download the product sheet. Enzyme activity: Fuc123 Alpha-Fucosidase is a glycosyl hydrolase that cleaves alpha-glucan residues from various alpha-fucosylated oligosaccharides including hydrolysis of alpha-L-fucose from algal fucosidan (Ascophyllum nodosum).. Activity determination: The standard assay is performed by mixing 10 μL enzyme sample to 80 μL of 125mM phosphate buffer at pH 6,5 with 20 μL PNP-alpha-fucopyranoside, incubated at 65°C. Reaction is stopped with 200μL 0,5M sodium borat and OD measured at 405 nm. Unit definition: One unit of activity is defined as the amount of enzyme, which liberates 1 μmol of p-nitrophenol per minute under the given assay conditions.. Synonyms: glycoside hydrolase, alpha-L-fucoside fucohydrolase, alpha-fucosidase. Protein family: Glycosyl hydrolase family. Enzyme classification: EC 3.2.1.51. Source: Proprietary environmental DNA. Substrates:. Fucoidan is a group of sulfated polysaccharides containing fucose ...
Lysosomes are intracellular organelles that contain hydrolytic enzymes that degrade a variety of macromolecules. Lysosomal storage disorders are a diverse group of inherited diseases characterized by the intracellular accumulation of macromolecules due to defects in their transport mechanisms across the lysosomal membrane or due to defective lysosomal enzyme function. The accumulation of these macromolecules leads to cell damage and, eventually, organ dysfunction. More than 40 lysosomal storage disorders have been described with a wide phenotypic spectrum.. Gaucher disease is an autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme, beta-glucosidase. Beta-glucosidase facilitates the lysosomal degradation of glucosylceramide (glucocerebroside) and glucopsychosine (glucosylsphingosine). Gaucher disease is caused by mutations in the GBA gene. There are 3 described types of Gaucher disease with varying clinical presentations and age of onset from a perinatal lethal ...
Lysosomes are intracellular organelles that contain hydrolytic enzymes to degrade a variety of macromolecules. Lysosomal storage disorders are a diverse group of inherited diseases where macromolecules accumulate due to defects in their transport mechanisms across the lysosomal membrane or due to defective lysosomal enzyme function. Accumulation of these macromolecules in the lysosomes leads to cell damage and, eventually, organ dysfunction. More than 40 lysosomal storage disorders have been described with a wide phenotypic spectrum.. Gaucher disease is an autosomal recessive lysosomal storage disorder caused by a deficiency of acid beta-glucosidase (glucocerebrosidase: GBA) resulting in increased storage of glucocerebroside (D-glucosylceramide). The deposition of glucocerebroside in macrophages of the reticuloendothelial system (Gaucher cells) causes organ dysfunction and organomegaly. Gaucher cells, found in the spleen, bone marrow, lung, lymph nodes, and liver, are characteristic of the ...
GM1 gangliosidosis (GM1) is an autosomal recessive lysosomal storage disease where GLB1 gene mutations result in a reduction or absence of lysosomal acid beta-galactosidase (betagal) activity. betagal deficiency leads to accumulation of GM1-ganglioside in the central nervous system (CNS). GM1 is characterized by progressive neurological decline resulting in generalized paralysis, extreme emaciation and death. In this study, we assessed the therapeutic efficacy of an adeno-associated virus (AAV) 9-mbetagal vector infused systemically in adult GM1 mice (betaGal(-/-)) at 1 x 10(11) or 3 x 10(11) vector genomes (vg). Biochemical analysis of AAV9-treated GM1 mice showed high betaGal activity in liver and serum. Moderate betaGal levels throughout CNS resulted in a 36-76% reduction in GM1-ganglioside content in the brain and 75-86% in the spinal cord. Histological analyses of the CNS of animals treated with 3 x 10(11) vg dose revealed increased presence of betagal and clearance of lysosomal storage throughout
Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) is an autosomal recessive lysosomal storage disorder caused by the deficiency of sulfamidase. The resulting lysosomal storage of heparan sulfate may lead to severe neurodegeneration preceded by progressive dementia, often combined with aggressive and hyperactive behaviour. A total of 109 patients from four different geographic areas were screened for the common mutation R245H and two other previously identified mutations. SSCP analysis of exons was used to characterize the unknown alleles. We identified 16 novel sequence variants, 12 of them likely to be pathogenic. The majority of the pathogenic variants were single base pair changes leading to missense mutations. Several single base pair deletions/insertions and one nonsense mutation were also identified. Altogether, we were able to characterize 55% of the pathogenic alleles. Sequence homology between sulfamidase and N-acetylgalactosamine 4-sulfatase, the first sulfatase to ...
Background: Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder characterized by severe neurologic and ophthalmologic abnormalities. Recently the MLIV gene, MCOLN1, has been identified as a new member of the transient receptor potential (TRP) cation channel superfamily. Here we report the cloning and characterization of the mouse homologue, Mcoln1, and report a novel splice variant that is not seen in humans. Results: The human and mouse genes display a high degree of synteny. Mcoln1 shows 91% amino acid and 86% nucleotide identity to MCOLN1. Also, Mcoln1 maps to chromosome 8 and contains an open reading frame of 580 amino acids, with a transcript length of approximately 2 kb encoded by 14 exons, similar to its human counterpart. The transcript that results from murine specific alternative splicing encodes a 611 amino acid protein that differs at the c-terminus. Conclusions: Mcoln1 is highly similar to MCOLN1, especially in the transmembrane domains and ion pore ...
Définitions de 1 3 alpha l fucosidase, synonymes, antonymes, dérivés de 1 3 alpha l fucosidase, dictionnaire analogique de 1 3 alpha l fucosidase (anglais)
BioAssay record AID 36841 submitted by ChEMBL: Inhibition of the enzyme alpha-L-fucosidase from bovine epididymis was determined at 1 mM concentration of the compound; No inhibition.
Complete information for FUCA1P1 gene (Pseudogene), Alpha-L-Fucosidase 1 Pseudogene 1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
References for Abcams Recombinant Human FUCA2 protein (ab117022). Please let us know if you have used this product in your publication
Fast delivery of FUCA2 knockout Human Cell Lines for the study of gene function. Created by CRISPR/Cas9 genome editing. Includes matched wildtype control.
This urinary oligosaccharide and glycan screening is using MALDI-TOF/TOF technology, which provides a better sensitivity and specificity than the traditional TLC method. Different from the traditional TLC method, this method successfully detects subtle excretions of abnormal oligosaccharides in mucolipidosis II and III ( I cell disease) as well as other oligosaccharidoses. Conditions screened for are the following: Fucosidosis, Alpha-mannosidosis, Beta-mannosidosis, Sialidosis, Aspartylglucosaminuria, Schindler disease, Kanzaki disease, Mucolipidosis II and III ( I cell disease), Galactosialidosis, CDGIIb, Pompe disease, and Tay Sachs / Sandhoff (GM2).. ...
The ability to sequence patient DNA has led to an explosion in the reports of mutations for a number of diseases. Frequently, published reports include in silico predictions of the probability that the mutations are disease-associated. The question asked here is how well these in silico methods predict the effects of new mutations, i.e., mutations not included in the dataset(s) used for training and testing the in silico method. To address this question, we examined mutations associated, or potentially associated, with Morquio A (MPS IVA), a rare, autosomal recessive lysosomal storage disorder (LSD) caused by a deficiency of lysosomal enzyme N-acetylgalactosamine-6-sulfatase (GALNS). In the severe form of the disease, life expectancy is less than 30 years. More than 200 unique missense mutations have been identified in the GALNS gene, with effects ranging from no change in function (wild-type) to significant reduction in functional effect (severe forms of the disease). Using GALNS as the model gene, we
Metachromatic Leukodystrophy (MLD) is an autosomal recessive Lysosomal Storage Disorder (LSD) characterized by severe and progressive dysmyelination affecting the central and peripheral nervous system.. Hematopoietic cell transplantation (HCT) is ineffective in ameliorating patients phenotype or delaying disease evolution. No evidences of efficacy of enzyme replacement strategies are available at the moment. Transplantation of genetically corrected autologous hematopoietic stem cells (HSC) could represent a novel and potentially efficacious treatment for MLD patients.. We are conducting a gene therapy clinical trial based on autologous HSC and advanced generation lentiviral vectors (LV) for patients affected by the most severe, early onset forms of the disease, based on our preclinical efficacy and safety data and on the experience we acquired from the treatment of Adenosine deaminase deficiency (ADA-SCID) patients by a similar approach. Our general goal is to demonstrate safety and efficacy of ...
Opens the Highlight Feature Bar and highlights feature annotations from the FEATURES table of the record. The Highlight Feature Bar can be used to navigate to and highlight other features and provides links to display the highlighted region separately. Links in the FEATURES table will also highlight the corresponding region of the sequence. More... ...
Expression of FUCA2 in human tissue. Overview of the antibody staining with HPA031659, HPA031660 and HPA031661 in immunohistochemistry
Expression of FUCA2 (dJ20N2.5, MGC1314) in caudate tissue. Antibody staining with HPA031659, HPA031660 and HPA031661 in immunohistochemistry.
NOVATO, Calif., May 15, 2013 (GLOBE NEWSWIRE) -- Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced a Phase 1/2 study of UX003 for mucopolysaccharidosis type 7 (MPS 7, or Sly Syndrome). UX003 is a recombinant human b-glucuronidase intended as an enzyme replacement therapy (ERT) for the treatment of MPS 7, an extremely rare autosomal recessive lysosomal storage disorder characterized by a deficiency of the lysosomal enzyme b-glucuronidase and a severe multi-system disease.
Normark, W.R., Morton, J.L., and Delaney, J.R., 1982, Geologic setting of massive sulfide deposits and hydrothermal vents along the southern Juan de Fuca Ridge: U.S. Geological Survey Open-File Report 82-0200-A, 22 p. Koski, Randolph A., Normark, William R., Morton, Janet L., and Delaney, John R., 1982, Metal sulfide deposits on the Juan de Fuca Ridge: Woods Hole, MS, Oceanus, v. 25, no. 3, Deep ocean mining, p. 43-48. Normark, William R., Lupton, John E., Murray, James W., Koski, Randolph A., Clague, David A., Morton, Janet L., Delaney, John R., and Johnson, H. Paul, 1982, Polymetallic sulfide deposits and water-column tracers of active hydrothermal vents on the southern Juan de Fuca Ridge, in Special issue, Polymetallic sulfides: Marine Technology Society Journal, v. 16, no. 3, p. 46-53. Delaney, J.R., Koski, Randolph A., Clague, D.A., Bischoff, J.L., and Normark, William R., 1982, Massive zinc and iron-rich sulfide deposits associated with hot springs, Juan de Fuca Ridge, in American ...
Studies are reported on Alpha-Galactosidase and Conversion of Group B Erythrocytes and (2) Isolation and Characterization of Alpha-N-Acetylgalactosaminidase.*Enzymes
... encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targetted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008 ...
Adult-onset Niemann-Pick disease type C. Niemann-Pick disease type C (NP-C) is a rare autosomal recessive lysosomal storage disease that typically presents in infancy or childhood with hepatosplenomegaly and progressive neurologic decline. NP-C can present as late as the eighth decade of life with a more slowly progressive neurodegenerative disease, characterized by neuropsychiatric symptoms and movement disorders. Symptoms can include psychosis, behavioral changes, dementia, cerebellar ataxia, myoclonus, dystonia, dysphagia, and supranuclear gaze palsy. Miglustat was the first disease-modifying therapy, and cyclodextrin is in development. 1,2,3,4. References: ...
Compare prices and find information about prescription drugs used to treat Lysosomal Storage Disease. Treatment for lysosomal storage disease...
Learn more about Lysosomal Storage Disease at Palms West Hospital DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
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The major goal of the proposed research is to understand the molecular basis of lysosomal storage diseases, a collection of more than 40 inherited metabolic dis...
Learn more about Lysosomal Storage Disease at Doctors Hospital of Augusta DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
K01186 NEU1; sialidase-1 [EC:3.2.1.18] K01186 NEU1; sialidase-1 [EC:3.2.1.18] K01190 lacZ; beta-galactosidase [EC:3.2.1.23] K12373 HEXA_B; hexosaminidase [EC:3.2.1.52] K12373 HEXA_B; hexosaminidase [EC:3.2.1.52] K01191 MAN2C1; alpha-mannosidase [EC:3.2.1.24] K01227 E3.2.1.96; mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase [EC:3.2.1.96] K01206 FUCA; alpha-L-fucosidase [EC:3.2.1.51] K15923 AXY8; alpha-L-fucosidase 2 [EC:3.2.1.51 ...
PR Newswire LONDON, Nov. 14, 2016 LONDON, Nov. 14, 2016 /PRNewswire/ -- Persistence Market Research examines the global lysosomal storage diseases therapeutics market performance in a new publication. The
Learn more about Lysosomal Storage Disease at Blake Medical Center DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
Tablettes Dops information about active ingredients, pharmaceutical forms and doses by Fuca Laboratoire, Tablettes Dops indications, usages and related health products lists
While the catalytic nucleophile in the configuration-retaining alpha-L-fucosidases from family GH29 is fully conserved with respect to sequence, there is no fully sequence-conserved acid/base residue candidate across the family. X-ray crystallographic studies and kinetic characterizations have allowed the identification of this residue in a few cases, and a recent combination of phylogenetic tree analyses with substrate specificity data has allowed the division of GH29 enzymes into two subfamilies, A and B, allowing the probable assignment of these residues. Here, we perform detailed kinetic and mechanistic characterizations of the corresponding alanine mutants and other candidates. Through comparison of kinetic parameters obtained for the hydrolysis of fucosyl substrates with activated leaving groups by these mutants with those of the corresponding wild-type enzymes, in conjunction with the demonstration of azide rescue, we largely confirm the acid/base residue predictions for the GH29 ...
Over 30 different lysosomal storage diseases, each associated with deficiency of a specific lysosomal enzyme, have been described in man (Gieselmann 1995). Because of the ubiquitous presence of...

Fucosidosis - NORD (National Organization for Rare Disorders)Fucosidosis - NORD (National Organization for Rare Disorders)

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. ... Individuals with fucosidosis also have a pseudogene- a gene that can no longer creates proteins or is no longer expressed in ...
more infohttps://rarediseases.org/rare-diseases/fucosidosis/

Fucosidosis
     Summary Report | CureHunterFucosidosis Summary Report | CureHunter

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 ... Fucosidosis Type I; Fucosidosis Type II; Fucosidosis, Infantile; Fucosidosis, Juvenile; alpha-Fucosidase Deficiency Disease; ...
more infohttp://www.curehunter.com/public/keywordSummaryD005645-Fucosidosis.do

Fucosidosis - WikipediaFucosidosis - Wikipedia

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 one of nine identified glycoprotein storage diseases. The gene encoding the alpha-fucosidase, FUCA 1, was found ...
more infohttps://en.wikipedia.org/wiki/Fucosidosis

Alpha-fucosidosis | definition of alpha-fucosidosis by Medical dictionaryAlpha-fucosidosis | definition of alpha-fucosidosis by Medical dictionary

What is alpha-fucosidosis? Meaning of alpha-fucosidosis medical term. What does alpha-fucosidosis mean? ... Looking for online definition of alpha-fucosidosis in the Medical Dictionary? alpha-fucosidosis explanation free. ... alpha-fucosidosis. α-fucosidosis. an hereditary disease of humans and English springer spaniel dogs, due to deficient activity ... Alpha-fucosidosis , definition of alpha-fucosidosis by Medical dictionary https://medical-dictionary.thefreedictionary.com/ ...
more infohttp://medical-dictionary.thefreedictionary.com/alpha-fucosidosis

LABOKLIN (UK)| Genetic Diseases | Dogs| FucosidosisLABOKLIN (UK)| Genetic Diseases | Dogs| Fucosidosis

Fucosidosis is inherited in an autosomal recessive trait. This means that an English Springer Spaniel can be genetically clear ... and non-carrier puppies saved for the next round of breeding.Fucosidosis is a lysosomal storage disorder caused by deficiency ... also called homozygous normal), a carrier (also called heterozygous) or affected concerning the Fucosidosis. Especially the ... The genetic defects leading to Fucosidosis and Phosphofructokinase Deficiency in the English Springer Spaniels have been ...
more infohttp://www.laboklin.co.uk/laboklin/showGeneticTest.jsp?testID=8016

Fucosidosis: genetic and biochemical analysis of eight cases. | Journal of Medical GeneticsFucosidosis: genetic and biochemical analysis of eight cases. | Journal of Medical Genetics

The detection of five novel mutations in six severely affected patients confirms the genetic heterogeneity in fucosidosis. ... had been diagnosed clinically and enzymatically as suffering from the autosomal recessive lysosomal storage disease fucosidosis ...
more infohttp://jmg.bmj.com/content/34/2/105

A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease...A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease...

Fucosidosis is a rare lysosomal storage disorder caused by the inherited deficiency of the lysosomal hydrolase α-L-fucosidase, ... Here we report the generation of a fucosidosis mouse model, in which the gene for lysosomal α-L-fucosidase (Fuca1) was ... Our results demonstrate that this new fucosidosis mouse model resembles the human disease and thus will help to unravel ... A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease ...
more infohttp://dmm.biologists.org/content/early/2016/07/28/dmm.025122

HKU Scholars Hub: Leukodystrophy in a Chinese boy: a novel FUCA1 mutation causing Fucosidosis (Case Report)HKU Scholars Hub: Leukodystrophy in a Chinese boy: a novel FUCA1 mutation causing Fucosidosis (Case Report)

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 disorder caused by deficient α-1- ... Leukodystrophy in a Chinese boy: a novel FUCA1 mutation causing Fucosidosis (Case Report). en_HK. ...
more infohttp://hub.hku.hk/handle/10722/106270

Fucosidosis - ISMRDFucosidosis - ISMRD

Fucosidosis. General Description. Fucosidosis is caused by the lack of the enzyme alpha-fucosidase. ... How common is Fucosidosis? Fucosidosis is a very rare lysosomal storage disease and though the incidence worldwide is not known ... GeneTests: A list of labs testing for Fucosidosis.. *• Genetic Home Reference: This has an excellent description of Fucosidosis ... Is there a treatment for Fucosidosis? Individuals with Fucosidosis should have routine follow-up with Genetics, Neurology, ...
more infohttps://www.ismrd.org/glycoprotein-diseases/fucosidosis/

Fucosidosis             | Genetic and Rare Diseases Information Center (GARD) - an NCATS ProgramFucosidosis | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program

... disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Fucosidosis ... Fucosidosis Title Other Names:. Alpha-l-fucosidase deficiency; Lysosomal storage disease caused by defective alpha-L-fucosidase ... Fucosidosis is a lysosomal storage disease that affects many areas of the body, especially the brain. Affected individuals have ... In severe cases, symptoms appear in infancy; in milder cases, symptoms begin at age 1 or 2. Fucosidosis is caused by mutations ...
more infohttps://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=cluster&id=26836

FUCA1 gene - Genetics Home Reference - NIHFUCA1 gene - Genetics Home Reference - NIH

At least 26 mutations in the FUCA1 gene have been found to cause fucosidosis. Most of these mutations result in an abnormally ... Cragg H, Williamson M, Young E, OBrien J, Alhadeff J, Fang-Kircher S, Paschke E, Winchester B. Fucosidosis: genetic and ... Fucosidosis revisited: a review of 77 patients. Am J Med Genet. 1991 Jan;38(1):111-31. Review. ... Loss of brain cells is thought to cause the neurological symptoms of fucosidosis. Accumulation of glycolipids and glycoproteins ...
more infohttps://ghr.nlm.nih.gov/gene/FUCA1

Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell...Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell...

fucosidosis. genetic diseases and dysmorphic syndromes. globoid cell leukodystrophy. inborn errors of metabolism. mannosidosis ... Fucosidosis. Mucolipidoses. Carbohydrate Metabolism, Inborn Errors. Metabolism, Inborn Errors. Genetic Diseases, Inborn. ... I Cell Disease Fucosidosis Globoid Cell Leukodystrophy Adrenoleukodystrophy Mannosidosis Niemann-Pick Disease Pulmonary ... Fucosidosis Leukoencephalopathy with vanishing white matter Lysosomal acid lipase deficiency Megalencephalic ...
more infohttps://clinicaltrials.gov/ct2/show/NCT00005900?cond=%22Communication+Disorders%22&rank=7

CROMOSOMAS by Andrea  Pardo Cerquera on PreziCROMOSOMAS by Andrea Pardo Cerquera on Prezi

1p34 Fucosidosis. 1p34 Síndrome de Van der Woude. 1p36 Ataxia cerebrospinal. 1p36 Enfermedad inflamatoria intestinal. 1p36.1 ...
more infohttps://prezi.com/gl1jadvl0cir/cromosomas/

451910: Inheritest® Gene-specific Sequencing, NGS | LabCorp451910: Inheritest® Gene-specific Sequencing, NGS | LabCorp

Fucosidosis; Galactosemia; Galactosialidosis; Gaucher disease; Glutaric acidemia type 1; Glutathione synthetase deficiency; ... Fucosidosis; Galactosemia; Galactosialidosis; Gaucher disease; Glutaric acidemia type 1; Glutathione synthetase deficiency; ... Fucosidosis; Galactosemia; Galactosialidosis; Gaucher disease; Glutaric acidemia type 1; Glutathione synthetase deficiency; ...
more infohttps://www.labcorp.com/test-menu/29581/inheritest%C2%AE-gene-specific-sequencing-ngs

Genetic Brain Disorders | MedlinePlusGenetic Brain Disorders | MedlinePlus

Genetics Home Reference: fucosidosis (National Library of Medicine) * Genetics Home Reference: fumarase deficiency (National ...
more infohttps://medlineplus.gov/geneticbraindisorders.html

Carbohydrate Metabolism Disorders: MedlinePlusCarbohydrate Metabolism Disorders: MedlinePlus

Genetics Home Reference: fucosidosis (National Library of Medicine) * Genetics Home Reference: galactosemia (National Library ...
more infohttps://medlineplus.gov/carbohydratemetabolismdisorders.html

Diseases in fast-track Social Security program | Home | The Journal GazetteDiseases in fast-track Social Security program | Home | The Journal Gazette

Fucosidosis - type 1. Fukuyama congenital muscular dystrophy. Fulminant giant cell myocarditis. Galactosialidosis - early and ...
more infohttp://www.journalgazette.net/article/20121205/APA/1212050969

Inborn Errors of Metabolism in Infancy and Early Childhood:  An Update - American Family PhysicianInborn Errors of Metabolism in Infancy and Early Childhood: An Update - American Family Physician

Recent innovations in medical technology have changed newborn screening programs in the United States. The widespread use of tandem mass spectrometry is helping to identify more inborn errors of metabolism. Primary care physicians often are the first to be contacted by state and reference laboratories when neonatal screening detects the possibility of an inborn error of metabolism. Physicians must take immediate steps to evaluate the infant and should be able to access a regional metabolic disorder subspecialty center. Detailed knowledge of biochemical pathways is not necessary to treat patients during the initial evaluation. Nonspecific metabolic abnormalities (e.g., hypoglycemia, metabolic acidosis, hyperammonemia) must be treated urgently even if the specific underlying metabolic disorder is not yet known. Similarly, physicians still must recognize inborn errors of metabolism that are not detected reliably by tandem mass spectrometry and know when to pursue additional diagnostic testing. The early
more infohttps://www.aafp.org/afp/2006/0601/p1981.html

CiNii Articles - Matsuda IchiroCiNii Articles - Matsuda Ichiro

Seismicity Along the Suruga-Nankai Trough Observed by Pop-up Type Ocean Bottom Seismographs : In Comparison with the JMA Catalogue (2003 ...
more infohttps://ci.nii.ac.jp/author?q=Matsuda+Ichiro

SLC38A11 Gene - GeneCards | S38AB Protein | S38AB AntibodySLC38A11 Gene - GeneCards | S38AB Protein | S38AB Antibody

Diseases associated with SLC38A11 include Fucosidosis and Spherocytosis, Type 1. Gene Ontology (GO) annotations related to this ...
more infohttps://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC38A11&keywords=GH02J164966&prefilter=genomic_location

List of diseases treated by transplantList of diseases treated by transplant

Fucosidosis. *Mannosidosis. *Polysaccharide hydrolase abnormality, not otherwise specified. *Other inherited metabolic disorder ...
more infohttps://bethematch.org/patients-and-families/before-transplant/choose-a-transplant-center/list-of-diseases-treated-by-transplant/

FUCA1 Gene - GeneCards | FUCO Protein | FUCO AntibodyFUCA1 Gene - GeneCards | FUCO Protein | FUCO Antibody

Fucosidosis: four new mutations and a new polymorphism. (PMID: 8504303) Seo H.-C. … OBrien J.S. (Hum. Mol. Genet. 1993) 3 4 22 ... 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. ( ... A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient. (PMID: 7874128) Seo H.-C ...
more infohttp://www.genecards.org/cgi-bin/carddisp.pl?gene=FUCA1

Social Security to fast-track some disability claims | HeraldNet.comSocial Security to fast-track some disability claims | HeraldNet.com

61 Fucosidosis - type 1. 62 Fukuyama congenital muscular dystrophy. 63 Fulminant giant cell myocarditis ...
more infohttp://www.heraldnet.com/news/social-security-to-fast-track-some-disability-claims/
  • Canine fucosidosis is found in the English Springer Spaniel. (wikipedia.org)
  • This means that an English Springer Spaniel can be genetically clear (also called homozygous normal), a carrier (also called heterozygous) or affected concerning the Fucosidosis. (laboklin.co.uk)
  • Fucosidosis results in progressive neurological deterioration, skin abnormalities, growth retardation, skeletal disease and coarsening of facial features. (rarediseases.org)
  • The symptoms and severity of fucosidosis are highly variable and the disorder represents a disease spectrum in which individuals with mild cases have been known to live into the third or fourth decades. (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)
  • Just like the human version, canine fucosidosis is a recessive disorder and two copies of the gene must be present, one from each parent, in order to show symptoms of the disease. (wikipedia.org)
  • 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 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)
  • Fucosidosis is a lysosomal storage disease that affects many areas of the body, especially the brain. (cdc.gov)
  • Fucosidosis is one of nine identified glycoprotein storage diseases. (wikipedia.org)
  • Animal Genetics Inc. Genetics Home Reference The Medical Biochemistry Page http://www.ismrd.org/glycoprotein_diseases/fucosidosis Archived July 2, 2015, at the Wayback Machine. (wikipedia.org)
  • For some Glycoprotein diseases, including Fucosidosis, bone marrow transplant has been trialed as an experimental therapy but there are no conclusive results on the long term benefits. (ismrd.org)
  • Diseases associated with SLC38A11 include Fucosidosis and Spherocytosis, Type 1 . (genecards.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 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)
  • Fucosidosis revisited: a review of 77 patients. (nih.gov)
  • 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)
  • In the past, fucosidosis was sometimes separated in type I and type II. (rarediseases.org)
  • Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. (curehunter.com)
  • Type II fucosidosis presents between 12 and 24 months of life. (ismrd.org)
  • Another feature of type II fucosidosis is the presence of twisted blood vessels within the membrane covering of the eyeball and inner eyelid. (ismrd.org)
  • Fucosidosis: genetic and biochemical analysis of eight cases. (bmj.com)
  • It is very unlikely that the dog will develop Fucosidosis. (laboklin.co.uk)
  • Is there a treatment for Fucosidosis? (ismrd.org)
  • Fucosidosis is caused by the lack of the enzyme alpha-fucosidase. (ismrd.org)