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Fabry disease screening

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https://www.readbyqxmd.com/read/29336944/editorial-commentary-newborn-screening-for-fabry-disease-too-much-too-soon
#1
EDITORIAL
M Langeveld
No abstract text is available yet for this article.
January 5, 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
#2
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...
January 12, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29305833/simple-and-efficient-screening-of-patients-with-fabry-disease-with-high-resolution-melting
#3
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...
January 3, 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
#4
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)...
December 22, 2017: 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
#5
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...
December 12, 2017: 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
#6
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
#7
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
#8
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...
November 15, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29152458/lysosomal-storage-diseases
#9
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
#10
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...
November 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29100912/fabry-disease-review-and-experience-during-newborn-screening
#11
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...
October 20, 2017: 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
#12
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
#13
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
https://www.readbyqxmd.com/read/28943383/identification-of-fabry-disease-in-a-tertiary-referral-cohort-of-patients-with-hypertrophic-cardiomyopathy
#14
Martin S Maron, Winnie Xin, Katherine B Sims, Rita Butler, Tammy S Haas, Ethan J Rowin, Robert J Desnick, Barry J Maron
BACKGROUND: Fabry Disease is a X-linked lysosomal storage disorder caused by the deficient activity of α-galactosidase A due to mutations in the GLA gene, which may be associated with increased left ventricular wall thickness, and mimic the morphologic features of hypertrophic cardiomyopathy. Management strategies for these two diseases diverge, with Fabry disease-specific treatment utilizing recombinant α-galactosidase A enzyme replacement therapy. METHODS: We studied a prospectively assembled consecutive cohort of 585 patients (71% male) from two hypertrophic cardiomyopathy tertiary referral centers by screening for low α-galactosidase A activity in dried blood spots...
September 21, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28892806/a-novel-missense-gla-mutation-p-g35v-detected-in-hemodialysis-screening-leads-to-severe-systemic-manifestations-of-fabry-disease-in-men-and-women
#15
Valeria Soares Pigozzi Veloso, Thiago Lacerda Ataides, Maria Eugênia Fernandes Canziani, Mariana Pigozzi Veloso, Nilzio Antônio da Silva, Daniela Veit Barreto, Edna Regina Silva Pereira, Luiz Antonio Ribeiro de Moura, Fellype Carvalho Barreto
BACKGROUND/AIMS: Fabry disease (FD), an X-linked lysosomal storage disorder, leads to accumulation of globotriaosylceramide. Screening in dialysis patients may identify genetic variants of unknown clinical significance. We aimed to characterize the pathogenicity of a novel GLA gene mutation identified during hemodialysis screening and the histologic findings of early Fabry nephropathy. METHODS: One out of 108 male hemodialysis patients screened for FD presented low α-galactosidase A activity...
September 12, 2017: Nephron
https://www.readbyqxmd.com/read/28871487/fabry-disease-in-children-a-federal-screening-programme-in-russia
#16
Leyla Seymurovna Namazova-Baranova, Alexander Alexandrovich Baranov, Aleksander Alekseevich Pushkov, Kirill Victorovich Savostyanov
Our objective was to examine the prevalence of Fabry disease in Russian children with chronic pain in the distal limbs. This non-interventional, multi-centre study included children 2-18 years of age with chronic recurrent unilateral or bilateral pain, burning, or acroparesthesia in the hands or feet. The presence of Fabry disease was defined by abnormal alpha-galactosidase A activity in males or alpha-galactosidase gene (GLA) mutation in females. Among 214 patients (110 males), 84.1% had bilateral limb pain and 31...
October 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28808181/screening-of-fabry-disease-in-patients-with-end-stage-renal-disease-of-unknown-etiology-the-first-thailand-study
#17
Objoon Trachoo, Paisan Jittorntam, Sarunpong Pibalyart, Saowanee Kajanachumphol, Norasak Suvachittanont, Suthep Patputthipong, Piyatida Chuengsaman, Arkom Nongnuch
We aimed to explore the prevalence of Fabry disease in Thai patients who were diagnosed with end-stage renal disease (ESRD) of an unknown origin. Venous blood samples were collected from ESRD patients for biochemical and molecular studies. Alpha-galactosidase A (α-GAL A) screening was performed from dried-blood spots using fluorometry. Molecular confirmation was performed using DNA sequencing of the GLA gene. A total of 142 male and female patients were included in this study. Ten patients (7.04%) exhibited a significant decrease in α-GAL A activity...
October 17, 2016: Journal of Biomedical Research
https://www.readbyqxmd.com/read/28799081/the-psychosocial-impact-of-carrying-a-debated-variant-in-the-gla-gene
#18
Sarah Macklin, Dawn Laney, Emily Lisi, Andrea Atherton, Elizabeth Smith
The clinical significance of the c.427G>A (p.A143T) variant in GLA is a topic of debate within the lysosomal storage disease community. A review of the literature and published case reports found the clinical impact of the variant to range from classic Fabry symptoms to healthy unaffected males with normal alpha- galactosidase enzyme levels, leaving clinicians unsure of how to manage these individuals. As the number of states testing for Fabry disease on their newborn screening panel has increased, more people with this variant are being identified...
August 10, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28798024/fabry-disease-in-families-with-hypertrophic-cardiomyopathy-clinical-manifestations-in-the-classic-and-later-onset-phenotypes
#19
Berglind Adalsteinsdottir, Runolfur Palsson, Robert J Desnick, Marianna Gardarsdottir, Polakit Teekakirikul, Martin Maron, Evan Appelbaum, Ulf Neisius, Barry J Maron, Michael A Burke, Brenden Chen, Silvere Pagant, Christoffer V Madsen, Ragnar Danielsen, Reynir Arngrimsson, Ulla Feldt-Rasmussen, Jonathan G Seidman, Christine E Seidman, Gunnar Th Gunnarsson
BACKGROUND: The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA(α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B). METHODS AND RESULTS: Familial screening of at-risk relatives identified mutations in 16 family A members (8 men and 8 heterozygotes) and 25 family B members (10 men and 15 heterozygotes)...
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28797308/coeliac-disease-in-infants-antibodies-to-deamidated-gliadin-peptide-come-first
#20
Michele Arigliani, Francesca Rech Morassutti, Martina Fabris, Paola Melli, Elio Tonutti, Paola Cogo
BACKGROUND: The onset of coeliac disease (CD) in the first year of life is uncommon and the diagnosis can be challenging due to the suboptimal sensitivity of tissue transglutaminase antibodies (tTG) at this age and the many other possible causes of malabsorption in infants. Antibodies to deamidated gliadin peptides (anti-DGPs), especially IgG, may appear earlier than IgA anti-tTG in very young children with CD. CASE PRESENTATION: We report here on an 8-month-old child who was evaluated for failure to thrive, constipation and developmental delay...
August 10, 2017: Italian Journal of Pediatrics
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