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Fucosidosis

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https://www.readbyqxmd.com/read/27706744/novel-mutations-in-the-fuca1-gene-that-cause-fucosidosis
#1
W Panmontha, P Amarinthnukrowh, P Damrongphol, T Desudchit, K Suphapeetiporn, V Shotelersuk
Fucosidosis is a rare lysosomal storage disorder inherited in an autosomal recessive manner. Its estimated frequency is below 1 in 200,000 live births. Its clinical phenotypes include progressive neurological and mental deterioration, coarse facial features, growth retardation, visceromegaly, angiokeratomas, and seizures. The disease is caused by mutations in the FUCA1 gene that lead to deficiency of a-L-fucosidase. Here, we describe the clinical and molecular features of a Thai boy with fucosidosis. Whole exome sequencing and array-based comparative genomic hybridization analysis revealed that the patient was compound heterozygous for a single base-pair deletion (c...
September 16, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27491218/therapy-development-for-the-lysosomal-storage-disease-fucosidosis-using-the-canine-animal-model
#2
REVIEW
Jessica L Fletcher, Rosanne M Taylor
Abstract Fucosidosis (OMIM 23000) is an inherited neurodegenerative lysosomal storage disease caused by a deficiency of the lysosomal hydrolase a-L-fucosidase due to mutations in the FUCA1 gene. Without enzyme-targeted therapy patients rarely survive beyond the first decade of life, and therapy options other than supportive care are limited. Hematopoietic transplants, first developed in the fucosidosis dog model, are the only treatment option available capable of delaying the disease course. However, due to the risks and exclusion criteria of this treatment additional therapies are required...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27491075/a-mouse-model-for-fucosidosis-recapitulates-storage-pathology-and-neurological-features-of-the-milder-form-of-the-human-disease
#3
Heike Wolf, Markus Damme, Stijn Stroobants, Rudi D'Hooge, Hans Christian Beck, Irm Hermans-Borgmeyer, Renate Lüllmann-Rauch, Thomas Dierks, Torben Lübke
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 knockout 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 in urine...
September 1, 2016: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/27469132/measurement-of-elevated-concentrations-of-urine-keratan-sulfate-by-uplc-msms-in-lysosomal-storage-disorders-lsds-comparison-of-urine-keratan-sulfate-levels-in-mps-iva-versus-other-lsds
#4
Katarzyna A Ellsworth, Laura M Pollard, Sara Cathey, Tim Wood
Keratan sulfate (KS) is commonly elevated in urine samples from patients with mucopolysaccharidosis type IVA (MPS IVA) and is considered pathognomonic for the condition. Recently, a new method has been described by Martell et al. to detect and measure urinary KS utilizing LC-MS/MS. As a part of the validation of this method in our laboratory, we studied the sensitivity and specificity of elevated urine KS levels using 25 samples from 15 MPS IVA patients, and 138 samples from 102 patients with other lysosomal storage disorders, including MPS I (n = 9), MPS II (n = 13), MPS III (n = 23), MPS VI (n = 7), beta-galactosidase deficiency (n = 7), mucolipidosis (ML) type II, II/III and III (n = 51), alpha-mannosidosis (n = 11), fucosidosis (n = 4), sialidosis (n = 5), Pompe disease (n = 3), aspartylglucosaminuria (n = 4), and galactosialidosis (n = 1)...
July 28, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27008195/inherited-metabolic-disorders-efficacy-of-enzyme-assays-on-dried-blood-spots-for-the-diagnosis-of-lysosomal-storage-disorders
#5
Jyotsna Verma, Divya C Thomas, David C Kasper, Sandeepika Sharma, Ratna D Puri, Sunita Bijarnia-Mahay, Pramod K Mistry, Ishwar C Verma
High consanguinity rates, poor access to accurate diagnostic tests, and costly therapies are the main causes of increased burden of lysosomal storage disorders (LSDs) in developing countries. Therefore, there is a major unmet need for accurate and economical diagnostic tests to facilitate diagnosis and consideration of therapies before irreversible complications occur. In cross-country study, we utilized dried blood spots (DBS) of 1,033 patients clinically suspected to harbor LSDs for enzymatic diagnosis using modified fluorometric assays from March 2013 through May 2015...
March 24, 2016: JIMD Reports
https://www.readbyqxmd.com/read/26713986/lysosomal-storage-disorders-in-indian-children-with-neuroregression-attending-a-genetic-center
#6
Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, Frenny Sheth, Mahesh Kamate, Heli Shah, Chaitanya Datar
OBJECTIVE: To study the etiology of neuroregression in children having deficiency of the lysosomal enzymes. DESIGN: Review of medical records. SETTING: Specialized Genetic Center. PARTICIPANTS: 432 children aged 3 mo-18 y having regression in a learned skill, selected from 1453 patients referred for diagnostic workup of various Lysosomal storage disorders (LSDs). METHODS: Plasma chitotriosidase, quantitative and qualitative glycosaminoglycans, and mucolipidosis-II/II screening followed by confirmatory enzyme study using specific substrate was carried out; Niemann-Pick disease Type-C was studied by fillipin stain method on skin fibroblasts...
December 2015: Indian Pediatrics
https://www.readbyqxmd.com/read/26713028/clinical-and-neuroradiological-approach-to-fucosidosis-in-a-child-with-atypical-presentation
#7
Tanyel Zubarioglu, Ertugrul Kiykim, Cigdem Aktuglu Zeybek, Mehmet Serif Cansever, Gulcin Benbir, Ahmet Aydin, Cengiz Yalcinkaya
UNLABELLED: Fucosidosis is a rare lysosomal storage disease with clinical presentation of developmental retardation, coarse facial features, hepatosplenomegaly, dysostosis multiplex, and angiokeratomas. Here, a 7-year-old female patient with progressive dystonic movement disorder and loss of acquired motor skills is presented. Coarse facial feature and abnormal globuspallidus signaling in brain magnetic resonance imaging (MRI) led the patient to be investigated in terms of fucosidosis despite absence of hepatosplenomegaly, dysostosis multiplex, and angiokeratomas...
October 2015: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/26711085/associations-between-neurologic-dysfunction-and-lesions-in-canine-fucosidosis
#8
J L Fletcher, R M Taylor
Canine fucosidosis in English Springer spaniels is the only animal model of the neurovisceral lysosomal storage disease fucosidosis available for preclinical therapeutic trials. For this reason, it is crucial to identify critical time points in disease progression, and if there are particular lesions associated with specific aspects of neurologic dysfunction. Historical records of 53 canine fucosidosis cases from 1979 to 2009 containing a neurologic dysfunction score assessing motor, behavioral and sensory dysfunction were interrogated by statistical analysis...
April 2016: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/26622931/skeletal-and-brain-abnormalities-in-fucosidosis-a-rare-lysosomal-storage-disorder
#9
Camille Malatt, Jeffrey L Koning, John Naheedy
Fucosidosis is a rare genetic lysosomal storage disorder caused by a deficiency in alpha- L-fucosidase. We present a case of a 4-year, 11-month-old girl with developmental delay, as well as skeletal and brain abnormalities as shown on X-ray and MRI. Her spinal X- rays demonstrated lumbar kyphosis and anterior beaking of lumbar vertebral bodies. Lower iliac segment constriction, increased angulation of the acetabular roof, and widening of the ribs were apparent on abdominal X-ray. Her brain MRI illustrated symmetric T1 hyperintensity and T2 hypointensity of the bilateral globi pallidi...
May 2015: Journal of Radiology Case Reports
https://www.readbyqxmd.com/read/26537923/the-effects-of-intracisternal-enzyme-replacement-versus-sham-treatment-on-central-neuropathology-in-preclinical-canine-fucosidosis
#10
COMPARATIVE STUDY
Gauthami Sudhamayee Kondagari, Jessica Louise Fletcher, Rachel Cruz, Peter Williamson, John J Hopwood, Rosanne Maree Taylor
BACKGROUND: Fucosidosis results from lack of α-L-fucosidase activity, with accumulation of fucose-linked substrates in the nervous system and viscera leading to progressive motor and mental deterioration, and death. The naturally occurring dog model of fucosidosis was used to evaluate the neuropathological responses to partial enzyme replacement, and substrate reduction in early disease following treatment with recombinant canine α-L-fucosidase delivered through cerebrospinal fluid...
2015: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/26515723/mri-and-mrs-findings-in-fucosidosis-a-rare-lysosomal-storage-disease
#11
Suna Sahin Ediz, Ayse Aralasmak, Temel Fatih Yilmaz, Huseyin Toprak, Gozde Yesil, Alpay Alkan
Fucosidosis is a rare lysosomal storage disorder caused by deficient activity of the enzyme l-fucosidase in all tissues. We presented magnetic resonance imaging [MRI] and MR spectroscopy [MRS] findings of a 4-year-old boy with genetically proven fucosidosis. He had a history and clinical findings of recurrent sinopulmonary infections, hypertonicity on lower extremities, gingival hypertrophy, bilateral ptosis, angiokeratoma corporis diffusum, and dysostosis multiplex. He had no organomegaly and urine glycosaminoglycan analysis were normal...
April 2016: Brain & Development
https://www.readbyqxmd.com/read/25818965/a-case-of-fucosidosis-type-ii-diagnosed-with-dysmorphological-and-radiological-findings
#12
Esra Kılıç, Mustafa Kılıç, G Eda Ütine, Serap Sivri, Turgay Coskun, Yasemin Alanay
Fucosidosis is a rare autosomal recessive lysosomal storage disorder in which fucose-containing glycolipids, glycoproteins and oligosaccharides accumulate in tissues, as a result of a deficiency of α-L-fucosidase. In this report we describe clinical, dysmorphological and radiological findings of a boy with this disorder. Developmental delay, skeletal deformities and mild coarsening of the face began at two years of age. Clinical signs typical for fucosidosis evolved over time. Psychomotor deterioration progressed slowly...
July 2014: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/25250075/siblings-with-fucosidosis
#13
Karthik Muthusamy, Maya Mary Thomas, Renu Elizabeth George, Mathew Alexander, Sunithi Mani, Rohit N Benjamin
Fucosidosis is a rare lysosomal storage disorder due to deficiency of fucosidase enzyme, with around 100 cases reported worldwide. Here, we describe the clinical and imaging features in two siblings with fucosidosis. An 8-year-old girl presented with global developmental delay, followed by regression of acquired milestones from 3 years of age with bipyramidal, extrapyramidal involvement, coarse facies, telangiectatic lesions, dysostosis multiplex, characteristic magnetic resonance imaging finding along with undetectable levels of the fucosidase activity, which confirmed the diagnosis...
May 2014: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/24806306/oligodendrocyte-loss-during-the-disease-course-in-a-canine-model-of-the-lysosomal-storage-disease-fucosidosis
#14
Jessica L Fletcher, Gauthami S Kondagari, Charles H Vite, Peter Williamson, Rosanne M Taylor
Hypomyelination is a poorly understood feature of many neurodegenerative lysosomal storage diseases, including fucosidosis in children and animals. To gain insight into hypomyelination in fucosidosis, we investigated lysosomal storage, oligodendrocyte death, and axonal and neuron loss in CNS tissues of fucosidosis-affected dogs aged 3 weeks to 42 months using immunohistochemistry, electron microscopy, and gene expression assays. Vacuole accumulation in fucosidosis oligodendrocytes commenced by 5 weeks of age; all oligodendrocytes were affected by 16 weeks...
June 2014: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/24788891/a-capillary-electrophoresis-procedure-for-the-screening-of-oligosaccharidoses-and-related-diseases
#15
Mercedes Casado, Laura Altimira, Raquel Montero, Esperanza Castejón, Andrés Nascimento, Belén Pérez-Dueñas, Aida Ormazabal, Rafael Artuch
The most widely used method for the biochemical screening of oligosaccharidoses is the analysis of the urinary oligosaccharide pattern by thin-layer chromatography on silica gel plates. However, this method is not always sensitive enough, and it is extremely time-consuming and laborious. In this work, the analysis of the urine oligosaccharide pattern was standardized for the first time by using capillary electrophoresis with laser-induced fluorescence (CE-LIF) detection (Beckman P/ACE MDQ) with a 488-nm argon ion laser module...
July 2014: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/24636010/late-diagnosis-of-fucosidosis-in-a-child-with-progressive-fixed-dystonia-bilateral-pallidal-lesions-and-red-spots-on-the-skin
#16
Matthias Gautschi, Laura Merlini, Anne-Marie Calza, Susan Hayflick, Jean-Marc Nuoffer, Joel Fluss
Fucosidosis is a rare lysosomal storage disease. A 14-year-old girl is presented, with recurrent infections, progressive dystonic movement disorder and mental retardation with onset in early childhood. The clinical picture was also marked by mild morphologic features, but absent dysostosis multiplex and organomegaly. MRI images at 6.5 years of age were reminiscent of pallidal iron deposition ("eye-of-the-tiger" sign) seen in neurodegeneration with brain iron accumulation (NBIA) disorders. Progressively spreading angiokeratoma corporis diffusum led to the correct diagnosis...
July 2014: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/24502792/fast-urinary-screening-of-oligosaccharidoses-by-maldi-tof-tof-mass-spectrometry
#17
Laurent Bonesso, Monique Piraud, Céline Caruba, Emmanuel Van Obberghen, Raymond Mengual, Charlotte Hinault
BACKGROUND: Oligosaccharidoses, which belong to the lysosomal storage diseases, are inherited metabolic disorders due to the absence or the loss of function of one of the enzymes involved in the catabolic pathway of glycoproteins and indirectly of glycosphingolipids. This enzymatic deficiency typically results in the abnormal accumulation of uncompletely degraded oligosaccharides in the urine. Since the clinical features of many of these disorders are not specific for a single enzyme deficiency, unambiguous screening is critical to limit the number of costly enzyme assays which otherwise must be performed...
2014: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/23830696/three-dimensional-structure-of-a-bacterial-%C3%AE-l-fucosidase-with-a-5-membered-iminocyclitol-inhibitor
#18
Daniel W Wright, Antonio J Moreno-Vargas, Ana T Carmona, Inmaculada Robina, Gideon J Davies
Fucosidases, enzymes that cleave fucose from the non-reducing end of a glycan, represent promising medicinal targets reflecting their roles in cancer metastasis, inflammation, host-parasite interactions and the lysosomal storage disorder fucosidosis. The X-ray crystal structures of Bacteroides thetaiotaomicron GH29 α-l-fucosidase (BtFuc2970) in a new crystal form (at a resolution of 1.59Å) and liganded with a 5-membered iminocyclitol inhibitor (1.73Å) are reported herein. The 5-membered iminocyclitol binds in a (3)E conformation, mimicking the proposed (3)H4 half chair transition-state of the enzyme catalysed reaction, and its Ki for BtFuc2970 was determined as 2μM...
August 15, 2013: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/23813353/could-gsd-type-i-expand-the-spectrum-of-disorders-with-elevated-plasma-chitotriosidase-activity
#19
Leyla Tümer, Çiğdem Seher Kasapkara, Gürsel Biberoğlu, Fatih Ezgü, Alev Hasanoğlu
Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. Human chitotriosidase is a recently described fully active chitinase expressed by activated macrophages. Marked elevation of chitotriosidase activity was initially observed in plasma of patients with Gaucher disease. Subsequently, elevation was also observed in various lysosomal storage disorders such as fucosidosis, galactosialidosis and glycogen storage disease type IV...
2013: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/23767401/unusual-papillary-lesion-of-the-ventral-tongue-case-report-of-solitary-angiokeratoma-of-the-oral-cavity
#20
Sonal S Shah, Zoya B Kurago
Many lesions in the oral cavity may present with a papillary or pebbly clinical appearance. Although the great majority of these papillary lesions are histologically diagnosed as squamous or viral papillomas, there are occasional cases of other more unusual possibilities. Angiokeratomas are uncommon vascular lesions that often present clinically as papillomas. They may also present with other varying clinical appearances that range from pigmented lesions to hemangiomas. However, all forms demonstrate a characteristic microscopic appearance consisting of hyperkeratotic, hyperplastic epithelium covering connective tissue with abundant blood vessels that are sharply confined to the connective tissue papillae...
April 2013: New York State Dental Journal
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