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Fabry disease screening

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https://www.readbyqxmd.com/read/29870571/neonatal-screening-for-four-lysosomal-storage-diseases-with-a-digital-microfluidics-platform-initial-results-in-brazil
#1
Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Heydy Bravo, Claudio Sampaio-Filho, Roberto Giugliani
We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. The method successfully identified patients previously diagnosed with these diseases and was used to test dried blood spot samples obtained from 10,527 newborns aged 2 to 14 days. The digital microfluidic technology shows potential for a simple, rapid and high-throughput screening for these four diseases in a standard neonatal screening laboratory...
June 4, 2018: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/29867742/galactosidase-alpha-p-a143t-variant-fabry-disease-may-result-in-a-phenotype-with-multifocal-microvascular-cerebral-involvement-at-a-young-age
#2
Lothar Hauth, Jeroen Kerstens, Laetitia Yperzeele, François Eyskens, Paul M Parizel, Barbara Willekens
Introduction: A 16-year-old male presented with episodic headaches and a brain magnetic resonance imaging (MRI) that showed multifocal punctate to patchy white matter lesions. The diagnosis of Fabry disease (FD) was suggested upon the finding of significantly reduced plasma alpha-galactosidase A activity (0.62 µmol/L or 13% of normal; normal range ≥ 1.65 μmol/L) and genetic investigation confirmed the presence of a hemizygous missense variant in the galactosidase alpha (GLA) gene (p...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29770213/variable-phenotypic-presentations-of-renal-involvement-in-fabry-disease-a-case-series
#3
Sarah McCloskey, Paul Brennan, John A Sayer
Fabry disease is an X-linked genetic deficiency in the alpha-galactosidase enzyme resulting in intracellular accumulation of glycosphingolipids and multisystem organ dysfunction. Typically 50% of males and 20% of affected females have renal involvement, ranging from proteinuria or reduced renal function, renal parapelvic cysts and progressive renal disease ultimately requiring transplantation or dialysis. The phenotypic presentation of Fabry disease is incredibly varied and will even vary between family members with the same confirmed genetic mutation...
2018: F1000Research
https://www.readbyqxmd.com/read/29755794/time-of-anderson-fabry-disease-detection-and-cardiovascular-presentation
#4
K Selthofer-Relatic
Background: Anderson-Fabry disease is an X-linked inherited disease, which manifests in a different manner depending on gender and genotype. Making a working diagnosis of Anderson-Fabry disease is difficult because of several reasons: (a) that it is a multiorgan disease with wide variety of phenotypes, (b) different timelines of presentation, (c) gender differences, and (d) possible coexistence with other comorbidities. Late-onset/cardiac type of presentation with minimal involvement of other organs can additionally make diagnosis difficult...
2018: Case Reports in Cardiology
https://www.readbyqxmd.com/read/29732925/new-genetically-engineered-dfs70-knock-out-hep-2-cells-enable-rapid-and-specific-recognition-of-anti-dfs70-antibodies
#5
Nicola Bizzaro, Martina Fabris
BACKGROUND: The correct identification of anti-dense fine speckled-70 (DFS70) antibodies represents an important issue in the detection of anti-nuclear antibodies (ANAs) as performed by the indirect immunofluorescence (IIF) test on HEp-2 substrates. In this study, we have evaluated a new method for anti-DFS70 antibody detection employing HEp-2 cells knocked-out for the DFS70 antigen. METHODS: We studied 148 sera with a DFS70-like pattern (91 positive and 57 negative when tested for anti-DFS70 antibodies by a specific chemoluminescence [CLIA] method); 116 sera with infectious disease; 100 healthy donors (HDs), 139 samples from patients with a defined diagnosis of autoimmune rheumatic disease (ARD), and 242 consecutive unselected samples screened for ANA during the routine work-up...
May 6, 2018: Autoimmunity
https://www.readbyqxmd.com/read/29582965/-screening-test-of-fabry-disease-in-patients-with-renal-replacement-therapy-in-the-city-of-modena
#6
Gaetano Alfano, Nicola Ganda, Caterina Cerami, Giacomo Mori, Francesco Fontana, Gianni Cappelli
Background: Fabry disease is a rare genetic lysosomal storage disease, inherited in an X-linked manner, characterized by lysosomal deposition of globotriaosylceramide due to deficient activity of the enzyme α-galactosidase A. Because the prevalence of this genetic disorder is unknown in the Emilia Romagna region, we conducted a screening study to assess the prevalence of Fabry disease in the city of Modena, Italy. Material and Methods: A screening study has been conducted in patients on renal replacement therapy at University Hospital of Modena...
March 2018: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/29543226/effectiveness-of-plasma-lyso-gb3-as-a-biomarker-for-selecting-high-risk-patients-with-fabry-disease-from-multispecialty-clinics-for-genetic-analysis
#7
Hiroki Maruyama, Kaori Miyata, Mariko Mikame, Atsumi Taguchi, Chu Guili, Masaru Shimura, Kei Murayama, Takeshi Inoue, Saori Yamamoto, Koichiro Sugimura, Koichi Tamita, Toshihiro Kawasaki, Jun Kajihara, Akifumi Onishi, Hitoshi Sugiyama, Teiko Sakai, Ichijiro Murata, Takamasa Oda, Shigeru Toyoda, Kenichiro Hanawa, Takeo Fujimura, Shigehisa Ura, Mimiko Matsumura, Hideki Takano, Satoshi Yamashita, Gaku Matsukura, Ryushi Tazawa, Tsuyoshi Shiga, Mio Ebato, Hiroshi Satoh, Satoshi Ishii
PurposePlasma globotriaosylsphingosine (lyso-Gb3) is a promising secondary screening biomarker for Fabry disease. Here, we examined its applicability as a primary screening biomarker for classic and late-onset Fabry disease in males and females.MethodsBetween 1 July 2014 and 31 December 2015, we screened 2,360 patients (1,324 males) referred from 169 Japanese specialty clinics (cardiology, nephrology, neurology, and pediatrics), based on clinical symptoms suggestive of Fabry disease. We used the plasma lyso-Gb3 concentration, α-galactosidase A (α-Gal A) activity, and analysis of the α-Gal A gene (GLA) for primary and secondary screens, respectively...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29336944/editorial-commentary-newborn-screening-for-fabry-disease-too-much-too-soon
#8
EDITORIAL
M Langeveld
No abstract text is available yet for this article.
May 2018: Trends in Cardiovascular Medicine
https://www.readbyqxmd.com/read/29330335/fabry-disease-prevalence-of-affected-males-and-heterozygotes-with-pathogenic-gla-mutations-identified-by-screening-renal-cardiac-and-stroke-clinics-1995-2017
#9
Dana Doheny, Ram Srinivasan, Silvere Pagant, Brenden Chen, Makiko Yasuda, Robert J Desnick
BACKGROUND: Fabry Disease (FD), an X linked lysosomal storage disease due to pathogenic α-galactosidase A ( GLA ) mutations, results in two major subtypes, the early-onset Type 1 'Classic' and the Type 2 'Later-Onset' phenotypes. To identify previously unrecognised patients, investigators screened cardiac, renal and stroke clinics by enzyme assays. However, some screening studies did not perform confirmatory GLA mutation analyses, and many included recently recognised 'benign/likely-benign' variants, thereby inflating prevalence estimates...
April 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29305833/simple-and-efficient-screening-of-patients-with-fabry-disease-with-high-resolution-melting
#10
Gabriela Pasqualim, Bruna Almeida Dos Santos, Roberto Giugliani, Ursula Matte
BACKGROUND: Fabry disease (FD [MIM: 301500]) is a disorder caused by mutations in the alpha-galactosidase gene (GLA), which presents great allelic heterogeneity. The development of fast screening methods may reduce costs and length of diagnosis, being particularly important for screening programs of high-risk female patients. Therefore, the purpose of this study was to develop a pre-sequencing genetic screening method based on high resolution melting (HRM) analysis. METHODS: We performed HRM analysis in one hundred and three individuals, 79 females and 24 males, with a total of 27 different variants in 30 different genotypes...
March 2018: Clinical Biochemistry
https://www.readbyqxmd.com/read/29290526/rapid-screening-for-lipid-storage-disorders-using-biochemical-markers-expert-center-data-and-review-of-the-literature
#11
M Voorink-Moret, S M I Goorden, A B P van Kuilenburg, F A Wijburg, J M M Ghauharali-van der Vlugt, F S Beers-Stet, A Zoetekouw, W Kulik, C E M Hollak, F M Vaz
BACKGROUND: In patients suspected of a lipid storage disorder (sphingolipidoses, lipidoses), confirmation of the diagnosis relies predominantly on the measurement of specific enzymatic activities and genetic studies. New UPLC-MS/MS methods have been developed to measure lysosphingolipids and oxysterols, which, combined with chitotriosidase activity may represent a rapid first tier screening for lipid storage disorders. MATERIAL AND METHODS: A lysosphingolipid panel consisting of lysoglobotriaosylceramide (LysoGb3), lysohexosylceramide (LysoHexCer: both lysoglucosylceramide and lysogalactosylceramide), lysosphingomyelin (LysoSM) and its carboxylated analogue lysosphingomyelin-509 (LysoSM-509) was measured in control subjects and plasma samples of predominantly untreated patients affected with lipid storage disorders (n=74)...
February 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29289886/synthesis-of-3s-4s-5s-trihydroxylpiperidine-derivatives-as-enzyme-stabilizers-to-improve-therapeutic-enzyme-activity-in-fabry-patient-cell-lines
#12
Huang-Yi Li, Jay-Der Lee, Chiao-Wen Chen, Ying-Chieh Sun, Wei-Chieh Cheng
A series of 3S,4S,5S-trihydroxylated piperidines bearing structural diversity at C-2 or C-6 positions has been synthesized and tested to determine their ability to stabilize the activity of recombinant human α-Galactosidase A (rh-α-Gal A). Hit molecules were identified by rapid inhibitory activity screening, and then further investigated for their ability to protect this enzyme from thermo-induced denaturation and enhance its activity in Fabry patient cell lines. Our study resulted in the identification of a new class of small molecules as enzyme stabilizers for the potential treatment of Fabry disease...
January 20, 2018: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29248912/screening-for-fabry-disease-in-kidney-disease-a-cross-sectional-study-in-males-and-females
#13
Luciana Senra de Souza Sodré, Rosália Maria Nunes Henriques Huaira, Marcus Gomes Bastos, Fernando Antônio Basile Colugnati, Marcelo Paula Coutinho, Natália Maria da Silva Fernandes
BACKGROUND/AIMS: Evaluate the prevalence of Fabry disease in men and women with kidney disease; and observe the presence and importance of the main signs and symptoms in patients with kidney disease. METHODS: A cross-sectional analysis of secondary data from a multicenter project of Clinical and Epidemiological Analysis of Fabry Disease in 854 Dialysis Centers. A total of 36,442 patients underwent the questionnaire and algorithm; of them, 28,284 were discarded for not presenting signs and symptoms of Fabry disease, while the other 8,087 submitted to blood collection and analysis...
2017: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29227985/low-frequency-of-fabry-disease-in-patients-with-common-heart-disease
#14
Raphael Schiffmann, Caren Swift, Nathan McNeill, Elfrida R Benjamin, Jeffrey P Castelli, Jay Barth, Lawrence Sweetman, Xuan Wang, Xiaoyang Wu
PurposeTo test the hypothesis that undiagnosed patients with Fabry disease exist among patients affected by common heart disease.MethodsGlobotriaosylceramide in random whole urine using tandem mass spectroscopy, α-galactosidase A activity in dried blood spots, and next-generation sequencing of pooled or individual genomic DNA samples supplemented by Sanger sequencing.ResultsWe tested 2,256 consecutive patients: 852 women (median age 65 years (19-95)) and 1,404 men (median age 65 years (21-92)). The primary diagnoses were coronary artery disease (n = 994), arrhythmia (n = 607), cardiomyopathy (n = 138), and valvular disease (n = 568)...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29215092/improvement-in-the-sensitivity-of-newborn-screening-for-fabry-disease-among-females-through-the-use-of-a-high-throughput-and-cost-effective-method-dna-mass-spectrometry
#15
Yung-Hsiu Lu, Po-Hsun Huang, Li-Yun Wang, Ting-Rong Hsu, Hsing-Yuan Li, Pi-Chang Lee, Yu-Ping Hsieh, Sheng-Che Hung, Yu-Chen Wang, Sheng-Kai Chang, Ya-Ting Lee, Ping-Hsun Ho, Hui-Chen Ho, Dau-Ming Niu
Many female carriers of Fabry disease are likely to develop severe morbidity and mortality. However, by our own estimation, around 80% of female newborns are missed by our current enzyme-based screening approach. Our team's aim was to develop an improved cost-effective screening method that is able to detect Fabry disease among female newborns. In Taiwan, based on a database of 916,000 newborns, ~98% of Fabry patients carry mutations out of a pool of only 21 pathogenic mutations. An Agena iPLEX platform was designed to detect these 21 pathogenic mutations using only a single-assay panel...
January 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29152458/lysosomal-storage-diseases
#16
REVIEW
Carlos R Ferreira, William A Gahl
Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy...
May 25, 2017: Translational Science of Rare Diseases
https://www.readbyqxmd.com/read/29143201/newborn-screening-for-lysosomal-storage-disorders-by-tandem-mass-spectrometry-in-north-east-italy
#17
Alberto B Burlina, Giulia Polo, Leonardo Salviati, Giovanni Duro, Carmela Zizzo, Andrea Dardis, Bruno Bembi, Chiara Cazzorla, Laura Rubert, Roberta Zordan, Robert J Desnick, Alessandro P Burlina
BACKGROUND: Lysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) to diagnose LSDs and permit early intervention to prevent irreversible impairment or severe disability. We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases...
March 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29100912/fabry-disease-review-and-experience-during-newborn-screening
#18
REVIEW
Ting-Rong Hsu, Dau-Ming Niu
Fabry disease (FD) is an X-linked lysosomal storage disease and is the result of mutation in the α-Galactosidase A gene; such mutations cause a deficiency in α-Galactosidase A enzyme and an accumulation of glycosphingolipid in tissue. Affected males with classic FD have little or no enzyme activity and have an early onset of symptoms and signs, including acroparesthesias, hypohidrosis, angiokeratomas, gastrointestinal dysfunction and/or a characteristic corneal dystrophy during childhood/adolescence. Males with late-onset FD who have residual enzyme activity develop progressive multi-systemic involvement that leads to renal failure and hypertrophic cardiomyopathy, as well as cerebrovascular disease; these events mostly occur during the fourth to seventh decades of life...
May 2018: Trends in Cardiovascular Medicine
https://www.readbyqxmd.com/read/29064315/safety-and-efficacy-of-helminth-treatment-in-relapsing-remitting-multiple-sclerosis-results-of-the-hint-2-clinical-trial
#19
John Fleming, Gianna Hernandez, Leslie Hartman, Jane Maksimovic, Sara Nace, Benjamin Lawler, Todd Risa, Thomas Cook, Rashmi Agni, Mark Reichelderfer, Christopher Luzzio, Loren Rolak, Aaron Field, Zsuzsanna Fabry
BACKGROUND: The hygiene hypothesis suggests that microbial replacement may be therapeutic in allergic and autoimmune diseases. Nevertheless, the results of helminth treatment, including in multiple sclerosis (MS), have been inconclusive. OBJECTIVE: To assess safety and brain magnetic resonance imaging (MRI) activity in subjects with relapsing-remitting multiple sclerosis (RRMS) during oral administration of ova from the porcine whipworm, Trichuris suis (TSO). METHODS: A total of 16 disease-modifying treatment (DMT) naive RRMS subjects were studied in a baseline versus treatment (BVT) controlled prospective study...
October 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28988177/fabry-disease-due-to-d313y-and-novel-gla-mutations
#20
Konstantinos Koulousios, Konstantinos Stylianou, Panagiotis Pateinakis, Maria Zamanakou, Gedeon Loules, Eleni Manou, Parthena Kyriklidou, Christos Katsinas, Alexandra Ouzouni, John Kyriazis, Matthaios Speletas, Anastasios E Germenis
OBJECTIVES: Our aim is to report four novel α-gal A gene ( GLA ) mutations resulting in Fabry disease (FD) and provide evidence of pathogenicity of the D313Y mutation regarding which contradictory data have been presented in the literature. SETTING AND PARTICIPANTS: Twenty-five family members of nine unrelated patients with definite FD diagnosis, 10 clinically suspected cases and 18 members of their families were included in this polycentric cohort study. PRIMARY AND SECONDARY OUTCOME MEASURES: Genotyping and measurement of lyso-Gb3 was performed in all individuals...
October 6, 2017: BMJ Open
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