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    4036 results match your criteria Angiokeratoma Corporis Diffusum Fabry Syndrome

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    [Fabry disease: about an uncommon case].
    Pan Afr Med J 2017 5;28:291. Epub 2017 Dec 5.
    Service de Cardiologie, 3 Hôpital Militaire Laayoune, Maroc.
    We here report the case of a 60-year old patient with congestive heart failure due to Fabry disease-related cardiopathy. This study has offered the opportunity to perform a literature review on cardiopathy related to this disease as well as to highlight the features of cardiac manifestation in Fabry disease. Read More


    Increased resting cerebral blood flow in adult Fabry disease: MRI arterial spin labeling study.
    Neurology 2018 Apr 21;90(16):e1379-e1385. Epub 2018 Mar 21.
    From the Stroke Research Centre, Department of Brain Repair and Rehabilitation (P.P., A.M., I.D., X.G., D.J.W.), UCL Institute of Neurology; Charles Dent Metabolic Unit (A.M., E.M., R.H.L.), National Hospital for Neurology and Neurosurgery, London; Beaumont Hospital and Royal College of Surgeons in Ireland (A.M.), Beaumont, Dublin; Academic Department of Neuroradiology (I.D., X.G.), Department of Brain Repair and Rehabilitation, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London; Department of Neuropsychology (F.B., L.C.), National Hospital for Neurology and Neurosurgery; Department of Biostatistics (F.J.), UCL and University College London Hospitals; Department of Neuroinflammation (C.W.-K.), UCL Institute of Neurology; and Lysosomal Storage Disorders Unit (D.H.), Royal Free Hospital, London, UK.
    Objective: To assess resting cerebral blood flow (CBF) in the whole-brain and cerebral white matter (WM) and gray matter (GM) of adults with Fabry disease (FD), using arterial spin labeling (ASL) MRI, and to investigate CBF correlations with WM hyperintensity (WMH) volume and the circulating biomarker lyso-Gb3.

    Methods: This cross-sectional, case-control study included 25 patients with genetically confirmed FD and 18 age-matched healthy controls. We quantified resting CBF using Quantitative Signal Targeting With Alternating Radiofrequency Labeling of Arterial Regions (QUASAR) ASL MRI. Read More

    Treatment in Fabry disease.
    Rev Clin Esp 2018 Apr 13. Epub 2018 Apr 13.
    Grupo de Trabajo de Enfermedades Minoritarias, Sociedad Española de Medicina Interna (SEMI). Electronic address:
    Fabry disease is an X-linked inborn disease caused by deficit of alpha-galactosidaseA. This results in accumulation of glycosphingolipids in all cells and tissues. All males should receive enzyme replacement treatment in case of very low or undetectable levels of alpha-galactosidaseA. Read More

    Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature.
    JIMD Rep 2018 Apr 14. Epub 2018 Apr 14.
    Danish Dementia Research Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
    Fabry disease is a rare progressive X-linked lysosomal storage disorder which leads to neuropathic pain, organ dysfunction and cerebral pathology. Few studies have investigated cognitive impairment in Fabry disease and these previous studies are difficult to compare due to heterogeneous methodological designs and small cohorts. The objective was to investigate the frequency of cognitive impairment in the Danish nationwide cohort of Fabry patients. Read More

    Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.
    Mol Genet Genomic Med 2018 Apr 12. Epub 2018 Apr 12.
    Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, UK.
    Background: The p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry disease. Read More

    Fabry disease in the Spanish population: observational study with detection of 77 patients.
    Orphanet J Rare Dis 2018 Apr 10;13(1):52. Epub 2018 Apr 10.
    Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur). SERGAS-UVIGO, Vigo, Spain.
    Background: Fabry disease is a multisystemic lysosomal storage disorder caused by the impairment of α-galactosidase A. The incidence of this rare disease is underestimated due to delayed diagnosis. Moreover, the management of the identified subjects is often complicated by the detection of variants of unclear diagnostic interpretation, usually identified in screening studies. Read More

    Early Cardiac Involvement Affects Left Ventricular Longitudinal Function in Females Carrying α-Galactosidase A Mutation: Role of Hybrid Positron Emission Tomography and Magnetic Resonance Imaging and Speckle-Tracking Echocardiography.
    Circ Cardiovasc Imaging 2018 Apr;11(4):e007019
    Departments of Advanced Biomedical Sciences (L.S., M.I., C.N., G.G., A. Ponsiglione, B.T., A.C.) and Public Health (E.R., A. Pisani), University of Naples Federico II, Italy; SDN IRCCS, Naples, Italy (E.N., T.C.D.); and Institute of Biomedicine and Molecular Immunology, National Council of Research, Palermo, Italy (G.D.).
    Background: Hybrid F-fluorodeoxyglucose (FDG) positron emission tomography and magnetic resonance imaging may differentiate mature fibrosis or scar from fibrosis associated to active inflammation in patients with Anderson-Fabry disease, even in nonhypertrophic stage. This study was designed to compare the results of positron emission tomography and magnetic resonance cardiac imaging with those of speckle-tracking echocardiography in heterozygous Anderson-Fabry disease females.

    Methods And Results: Twenty-four heterozygous females carrying α-galactosidase A mutation and without left ventricular hypertrophy underwent cardiac positron emission tomography and magnetic resonance using F-FDG for glucose uptake and 2-dimensional strain echocardiography. Read More

    Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.
    PLoS One 2018 5;13(4):e0193550. Epub 2018 Apr 5.
    Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College Medical School, London, United Kingdom.
    Background: Fabry disease (FD) results from X-linked inheritance of a mutation in the GLA gene, encoding for alpha galactosidase A, and is characterized by heterogeneous clinical manifestations. Two phenotypes have been described "Classic" and "late onset" which cannot be predicted exclusively by genotype. The latter has been considered an attenuated form of the disease often affecting a single organ system commonly the heart. Read More

    Genetics and gene therapy of Anderson-Fabry disease.
    Curr Gene Ther 2018 04 4. Epub 2018 Apr 4.
    U.O.C.di Medicina Interna con Stroke Care, Dipartimento Biomedico di Medicina Interna e Specialistica ( Di.Bi.M.I.S) , Universita degli Studi di Palermo, Piazza delle Cliniche n.2, 90127, Palermo. Italy.
    Fabry's disease is a genetic disorder of X-linked inheritance caused by mutations in the alpha galactosidase A gene resulting in deficiency of this lysosomal enzyme. The progressive accumulation of glycosphingolipids, caused by the inadequate enzymatic activity, is responsible of organ dysfunction and thus of clinical manifestations. In presence of a high clinical suspicion, a careful physical examination and specific laboratory tests are required, finally diagnosis of Fabry's disease is confirmed by demonstration of absence or reduced alpha galactosidase A enzyme activity in hemizygous men and gene typing in heterozygous females; in fact the performance of enzymatic activity assay alone in women is inconclusive. Read More

    Echocardiographic Assessment of Patients with Fabry Disease.
    J Am Soc Echocardiogr 2018 Mar 29. Epub 2018 Mar 29.
    Division of Cardiology, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address:
    Fabry disease is an X-linked lysosomal storage disorder that results from a deficiency of α-galactosidase A. Increased left ventricular wall thickness has been the most commonly described cardiovascular manifestation of the disease. However, a variety of other structural and functional abnormalities have also been reported. Read More

    Non-specific gastrointestinal features: Could it be Fabry disease?
    Dig Liver Dis 2018 May 1;50(5):429-437. Epub 2018 Mar 1.
    Neurological Unit, St. Bassiano Hospital, Bassano del Grappa, Italy. Electronic address:
    Non-specific gastrointestinal symptoms, including pain, diarrhoea, nausea, and vomiting, can be the first symptoms of Fabry disease. They may suggest more common disorders, e.g. Read More

    Targeting Glucosylceramide Synthesis in the Treatment of Rare and Common Renal Disease.
    Semin Nephrol 2018 Mar;38(2):183-192
    Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan. Electronic address:
    Sphingolipids, including ceramides, glycosphingolipids, sphingomyelin, and sphingosine-1-phosphate, have been recognized as important molecules that regulate critical cellular functions. Although originally studied in the context of lysosomal storage diseases, the roles of these compounds in more common disorders involving metabolism, vascular disease, and aberrant growth has been the focus of recent studies, including in disorders that affect the kidneys. These efforts have led to new insights into Fabry disease, a classic disorder of lysosomal function that results in renal failure as well as in more common renal diseases including diabetic nephropathy and polycystic kidney disease. Read More

    [Screening Test of Fabry Disease in Patients with Renal Replacement Therapy in the City of Modena].
    G Ital Nefrol 2018 Mar;35(2)
    Unità di Nefrologia, Dialisi e Trapianto, AOU Policlinico di Modena, Modena, Italia.
    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. Read More

    Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease.
    Exp Ther Med 2018 Apr 26;15(4):3733-3742. Epub 2018 Feb 26.
    Department of Nephrology, Institute of Nephrology, Ruijin Hospital, The Medical School of Shanghai Jiao Tong University, Shanghai 200025, P.R. China.
    Although plasma globotriaosylsphingosine (lyso-Gb3) is a promising biomarker of Fabry disease (FD), few studies have assessed the impact of lyso-Gb3 in patients with FD. A total of 38 patients diagnosed with FD at Ruijin Hospital between January 2012 and December 2014 were recruited in the current study. An additional 120 unrelated healthy individuals were selected as healthy controls. Read More

    Neuropathic pain in a Fabry disease rat model.
    JCI Insight 2018 Mar 22;3(6). Epub 2018 Mar 22.
    Department of Biochemistry, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
    Fabry disease, the most common lysosomal storage disease, affects multiple organs and results in a shortened life span. This disease is caused by a deficiency of the lysosomal enzyme α-galactosidase A, which leads to glycosphingolipid accumulation in many cell types. Neuropathic pain is an early and severely debilitating symptom in patients with Fabry disease, but the cellular and molecular mechanisms that cause the pain are unknown. Read More

    A Review of Fabry Disease.
    Skin Therapy Lett 2018 03;23(2):4-6
    Baywood Dermatology, Ajax, ON, Canada; CCA Medical Research, Ajax, ON, Canada; St. Michael's Hospital, Toronto, ON, Canada; Division of Dermatology, Department of Medicine, University of Toronto, Toronto, ON, Canada; Probity Medical Research, Waterloo, ON, Canada.
    Fabry disease (FD) is an X-linked lysosomal storage disease. A lack of alpha-galactosidase activity results in the accumulation of globotriaosylceramide in cells of various systems, leading to multi-systemic effects. The cutaneous hallmark of FD is a specific distribution of angiokeratoma. Read More

    Fabry Nephropathy: An Evidence-Based Narrative Review.
    Kidney Blood Press Res 2018 Mar 16;43(2):406-421. Epub 2018 Mar 16.
    Nephrology and Renal Transplant Department, Hospital Clinic, University of Barcelona, RedInRen, Barcelona, Spain.
    Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enzyme α-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in many cell types throughout the body, including the kidney. Progressive accumulation of Gb3 in podocytes, endothelial cells, epithelial cells, and tubular cells contribute to the renal symptoms of FD, which manifest as proteinuria and reduced glomerular filtration rate leading to renal insufficiency. Read More

    Medullary thick ascending limb impairment in the GlaTg(CAG-A4GALT) Fabry model mice.
    FASEB J 2018 Mar 19:fj201701374R. Epub 2018 Mar 19.
    Department of Matrix Medicine, Faculty of Medicine, Oita University, Yufu, Japan.
    A main feature of Fabry disease is nephropathy, with polyuria an early manifestation; however, the mechanism that underlies polyuria and affected tubules is unknown. To increase globotriaosylceramide (Gb3) levels, we previously crossbred asymptomatic Gla mice with transgenic mice that expressed human Gb3 synthase (A4GALT) and generated the GlaTg(CAG-A4GALT) symptomatic Fabry model mice. Additional analyses revealed that these mice exhibit polyuria and renal dysfunction without remarkable glomerular damage. Read More

    Specific storage of glycoconjugates with terminal α-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B.
    Glycobiology 2018 Mar 14. Epub 2018 Mar 14.
    Research Unit For Rare Diseases, Department of Pediatrics and Adolescence Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, 12808, Czech Republic.
    Blood group B glycosphingolipids (B-GSLs) are substrates of the lysosomal alpha-galactosidase A (AGAL). Similar to its major substrate - globotriaosylceramide (Gb3Cer) - B-GSLs are not degraded and accumulate in the cells of patients affected by an inherited defect of AGAL activity (Fabry disease - FD).The pancreas is a secretory organ known to have high biosynthesis of blood group GSLs. Read More

    Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.
    Genet Med 2018 Mar 15. Epub 2018 Mar 15.
    GlycoPharma Corporation, Oita, Japan.
    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. Read More

    Biomarkers of Myocardial Fibrosis: Revealing the Natural History of Fibrogenesis in Fabry Disease Cardiomyopathy.
    J Am Heart Assoc 2018 Mar 13;7(6). Epub 2018 Mar 13.
    Medicine 1 Department, Centro Hospitalar Lisboa Norte, Lisbon, Portugal.
    Background: Cardiomyopathy is a major determinant of overall Fabry disease (FD) prognosis, with the worst outcomes in patients with myocardial fibrosis. Late gadolinium enhancement is currently the gold standard for evaluation of replacement myocardial fibrosis; however, this event is irreversible, thus identification of biomarkers of earlier diffuse fibrosis is paramount.

    Methods And Results: Type I collagen synthesis and degradation biomarkers (PICP [carboxyterminal propeptide of procollagen type I], ICTP [carboxyterminal telopeptide of type I collagen], and MMP1 [matrix metalloproteinase 1] and MMP2) and markers of bone synthesis and degradation were evaluated (to adjust type I collagen metabolism to bone turnover) in FD patients and controls. Read More

    Fabry disease revisited: Management and treatment recommendations for adult patients.
    Mol Genet Metab 2018 Apr 28;123(4):416-427. Epub 2018 Feb 28.
    Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
    Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene leading to deficient α-galactosidase A activity, glycosphingolipid accumulation, and life-threatening complications. Phenotypes vary from the "classic" phenotype, with pediatric onset and multi-organ involvement, to later-onset, a predominantly cardiac phenotype. Manifestations are diverse in female patients in part due to variations in residual enzyme activity and X chromosome inactivation patterns. Read More

    Analysis of globotriaosylceramide (Gb) isoforms/analogs in unfractionated leukocytes, B lymphocytes and monocytes from Fabry patients using ultra-high performance liquid chromatography/tandem mass spectrometry.
    Anal Chim Acta 2018 Jul 19;1015:35-49. Epub 2018 Feb 19.
    Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, CR-CHUS, Hospital Fleurimont, 3,001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada. Electronic address:
    Fabry disease is an X-linked lysosomal storage disorder with marked variability in the phenotype and genotype. Glycosphingolipids such as globotriaosylceramide (Gb) isoforms/analogs, globotriaosylsphingosine (lyso-Gb) and analogs, and galabiosylceramide (Ga) isoforms/analogs may accumulate in biological fluids and different organs. The aims of this study were to: 1) develop/validate a novel UHPLC-MS/MS method for relative quantitation of Gb in leukocytes (unfractionated white blood cells), B lymphocytes and monocytes; 2) evaluate these biomarkers in a cohort of Fabry patients and healthy controls; and 3) assess correlations between these biomarkers, treatment and genotype. Read More

    Genetic Infiltrative Cardiomyopathies.
    Heart Fail Clin 2018 Apr;14(2):215-224
    Adult Medical Genetics Program, Cardiovascular Institute, University of Colorado Anschutz, 12700 East 19th Avenue, Aurora, CO 80045, USA. Electronic address:
    Infiltrative cardiomyopathies are characterized by abnormal accumulation or deposition of substances in cardiac tissue leading to cardiac dysfunction. These can be inherited, resulting from mutations in specific genes, which engender a diverse array of extracardiac features but overlapping cardiac phenotypes. This article provides an overview of each inherited infiltrative cardiomyopathy, describing the causative genes, the pathologic mechanisms involved, the resulting cardiac manifestations, and the therapies currently offered or being developed. Read More

    Case report: lipid inclusion in glomerular endothelial and mesangial cells in a patient after contrast medium injection.
    BMC Nephrol 2018 Mar 6;19(1):53. Epub 2018 Mar 6.
    Department of Nephrology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China.
    Background: It is well-recognized that injection of iodinated radiographic contrast media (CM) sometimes causes acute renal injury via multiple mechanisms, such as vasoconstriction, toxicity on glomerular endothelium and tubular epithelium and so forth.

    Case Presentation: A 51-year-old man developed acute renal injury with proteinuria after CM administration. To our surprise, in his renal biopsy sample the myelin figure like structure was observed in glomerular endothelium and mesangial cells by transmission electron microscopy. Read More

    Common presentation of rare diseases: Left ventricular hypertrophy and diastolic dysfunction.
    Int J Cardiol 2018 Apr;257:344-350
    Department of Clinical and Experimental Medicine, University of Florence, Italy.
    Left ventricular hypertrophy may be a consequence of a hemodynamic overload or a manifestation of several diseases affecting different structural and functional proteins of cardiomyocytes. Among these, sarcomeric hypertrophic cardiomyopathy (HCM) represents the most frequent cause. In addition, several metabolic diseases lead to myocardial thickening, either due to intracellular storage (glycogen storage and lysosomal diseases), extracellular deposition (TTR and AL amyloidosis) or due to abnormal energy metabolism (mitochondrial diseases). Read More

    Immune responses in stroke: how the immune system contributes to damage and healing after stroke and how this knowledge could be translated to better cures?
    Immunology 2018 Mar 1. Epub 2018 Mar 1.
    Department of Pathology and Laboratory Medicine, University of Wisconsin-Madison, Madison, WI, USA.
    Stroke is one of the leading causes of death and disability worldwide. The long-standing dogma that stroke is exclusively a vascular disease has been questioned by extensive clinical findings of immune factors that are associated mostly with inflammation after stroke. These have been confirmed in preclinical studies using experimental animal models. Read More

    Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease.
    Curr Genomics 2018 Jan;19(1):70-75
    Center for Experimental Medicine and Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha410013, China.
    Introduction: Fabry Disease (FD), the second most common lysosomal storage disorder after Gaucher disease, is characterized by variable clinical manifestations, including angiokeratoma, corneal dystrophy, recurrent episodes of extremity pain, renal impairment, cardiac complications and cerebrovascular manifestations. It is caused by mutations in the α-galactosidase A gene (gene symbol GLA) on chromosome Xq22, which leads to deficiency of lysosomal α-galactosidase A (α-Gal A), and subsequent accumulation of glycosphingolipids in various tissues and organs. The aim of this study is to identify the disease-causing mutation in a five-generation Chinese family with FD. Read More

    Mulberries in the urine: a tell-tale sign of Fabry disease.
    J Inherit Metab Dis 2018 Feb 27. Epub 2018 Feb 27.
    Department of Pediatric Neurology, Fukuoka Children's Hospital, 5-1-1 Kashiiteriha, Higashi-ku, Fukuoka, 813-0017, Japan.
    Fabry disease is a treatable progressive illness of inborn error causing eventual multiple organ dysfunction in advanced untreated cases. We report on a classic Fabry child patient presenting with urinary mulberry cells and bodies without renal involvement. This report emphasizes the usefulness of urinary microscopic findings in the early diagnosis of Fabry disease. Read More

    Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs.
    Oncotarget 2018 Jan 5;9(8):7758-7762. Epub 2018 Jan 5.
    National Research Council, Institute of Biomedicine and Molecular Immunology "A. Monroy", Palermo, Italy.
    Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by α galactosidase A (α-gal A) deficiency. Central nervous system involvement and chronic white matter lesions are observed in both FD and multiple sclerosis (MS), which can confound the differential diagnosis. We analyzed the gene, which encodes α-gal A, in 86 patients with clinical and neuroradiological findings consistent with MS to determine whether they had FD. Read More

    Skin Examination: An Important Diagnostic Tool in Renal Failure Patients.
    Blood Purif 2018 Jan 26;45(1-3):187-193. Epub 2018 Jan 26.
    Renal failure is common in the United States with an estimated prevalence of 660,000 treated end-stage renal disease patients in 2015 [1]. Causes of renal failure are many, and complications from renal failure, underlying disease, and treatment are not infrequent. Examples of common skin manifestations include xerosis, pigmentary change, and nail dystrophies. Read More

    Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
    Clin Chim Acta 2018 Jun 21;481:25-33. Epub 2018 Feb 21.
    Paediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Firenze, Italy; Department of NEUROFARBA, University of Florence, Firenze, Italy. Electronic address:
    Background: Allelic heterogeneity is an important feature of the GLA gene for which almost 900 known genetic variants have been discovered so far. Pathogenetic GLA variants cause alpha-galactosidase A (α-Gal A) enzyme deficiency leading to the X-linked lysosomal storage disorder Fabry disease (FD). Benign GLA intronic and exonic variants (e. Read More

    Antibody Epitope of Human α-Galactosidase A Revealed by Affinity Mass Spectrometry: A Basis for Reversing Immunoreactivity in Enzyme Replacement Therapy of Fabry Disease.
    ChemMedChem 2018 Feb 23. Epub 2018 Feb 23.
    Steinbeis Centre for Biopolymer Analysis and Biomedical Mass Spectrometry, 65428, Rüsselsheim am Main, Germany.
    α-Galactosidase (αGal) is a lysosomal enzyme that hydrolyses the terminal α-galactosyl moiety from glycosphingolipids. Mutations in the encoding genes for αGal lead to defective or misfolded enzyme, which results in substrate accumulation and subsequent organ dysfunction. The metabolic disease caused by a deficiency of human α-galactosidase A is known as Fabry disease or Fabry-Anderson disease, and it belongs to a larger group known as lysosomal storage diseases. Read More

    Chloroquine-induced cardiomyopathy: a reversible cause of heart failure.
    ESC Heart Fail 2018 Feb 20. Epub 2018 Feb 20.
    Division of Cardiology, Department of Medicine, University of Alberta, Edmonton, Alberta, Canada.
    Chloroquine (CQ) and hydroxychloroquine (HCQ) are anti-rheumatic medications frequently used in the treatment of connective tissue disorders. We present the case of a 45-year-old woman with CQ-induced cardiomyopathy leading to severe heart failure. Electrocardiographic abnormalities included bifascicular block, while structural disease consisted of severe biventricular and biatrial hypertrophy. Read More

    Comparison of left atrial size and function in hypertrophic cardiomyopathy and in Fabry disease with left ventricular hypertrophy.
    Echocardiography 2018 Feb 19. Epub 2018 Feb 19.
    Asociación Argentina de estudio de enfermedad de Fabry y otras enfermedades lisosomales.
    Background: Fabry disease (FD) and hypertrophic cardiomyopathy (HCM) are two diseases with a different pathophysiology, both cause left ventricular hypertrophy (LVH) and myocardial fibrosis. Although remodeling and systolic dysfunction of the left atrium (LA) are associated with atrial fibrillation and stroke in HCM, changes in the size and function of the LA have not been well studied in FD with LVH.

    Methods: The following groups were studied prospectively, and their respective findings compared: 19 patients with non-obstructive HCM (Group I), 20 patients with a diagnosis of Fabry cardiomyopathy (Group II), and 20 normal subjects matched for sex and age (Group III). Read More

    Adaptive pathway development for Fabry disease: a clinical approach.
    Drug Discov Today 2018 Feb 15. Epub 2018 Feb 15.
    Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:
    Fabry disease (FD) is a rare X-chromosome-linked lysosomal storage disorder. Although initial expectations of enzyme replacement therapy (ERT) were high, it is now clear that real-world effectiveness is disappointing and evidence gathering has been inadequate. In retrospect, development of ERT for FD had several shortcomings. Read More

    Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.
    J Med Genet 2018 Feb 7. Epub 2018 Feb 7.
    Department of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands.
    Background: Two recombinant enzymes (agalsidase alfa 0.2 mg/kg/every other week and agalsidase beta 1.0 mg/kg/every other week) have been registered for the treatment of Fabry disease (FD), at equal high costs. Read More

    Signatures of Altered Gene Expression in Dorsal Root Ganglia of a Fabry Disease Mouse Model.
    Front Mol Neurosci 2017 25;10:449. Epub 2018 Jan 25.
    Division of Physiology, Department of Physiology and Medical Physics, Medical University of Innsbruck, Innsbruck, Austria.
    Fabry disease is an X-linked lysosomal storage disorder with involvement of the nervous system. Accumulation of glycosphingolipids within peripheral nerves and/or dorsal root ganglia results in pain due to small-fiber neuropathy, which affects the majority of patients already in early childhood. The α-galactosidase A deficient mouse proved to be an adequate model for Fabry disease, as it shares many symptoms including altered temperature sensitivity and pain perception. Read More


    The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients.
    JIMD Rep 2018 Jan 30. Epub 2018 Jan 30.
    Lysosomal Storage Disorders Unit, London, UK.
    Fabry disease, a lysosomal storage disorder, is a rare inborn error of metabolism caused by deficiency of the enzyme alpha galactosidase A and resulting accumulation of globotriaosylceramide. The symptoms of Fabry disease are heterogeneous including renal failure, cardiac hypertrophy, and stroke and may not be well recognized by non-specialist physicians. Patients with milder, later onset of disease often have a delay in diagnosis. Read More

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