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    3875 results match your criteria Angiokeratoma Corporis Diffusum Fabry Syndrome

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    Lipid profile in adult patients with Fabry disease - Ten-year follow up.
    Mol Genet Metab Rep 2017 Dec 13;13:3-6. Epub 2017 Jul 13.
    Adult Inherited Metabolic Disorders, The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust, Ladywell NW2- 2nd Floor Room 112, Salford, Manchester M6 8HD, United Kingdom.
    Background: Fabry disease, an X-linked genetic condition, results from alpha-galactosidase deficiency and increased accumulation of glycosphingolipids in cardiovascular tissues. Clinical manifestation includes vasculature associated complications. Hyperlipidaemia is one of the cardiovascular risk factors however it has never been well defined in Fabry disease. Read More

    Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.
    Front Pharmacol 2017 7;8:448. Epub 2017 Jul 7.
    Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates UniversityAl Ain, United Arab Emirates.
    Different approaches have been utilized or proposed for the treatment of lysosomal storage disorders (LSDs) including enzyme replacement and hematopoietic stem cell transplant therapies, both aiming to compensate for the enzymatic loss of the underlying mutated lysosomal enzymes. However, these approaches have their own limitations and therefore the vast majority of LSDs are either still untreatable or their treatments are inadequate. Missense mutations affecting enzyme stability, folding and cellular trafficking are common in LSDs resulting often in low protein half-life, premature degradation, aggregation and retention of the mutant proteins in the endoplasmic reticulum. Read More

    Cardiac sympathetic neuronal damage precedes myocardial fibrosis in patients with Anderson-Fabry disease.
    Eur J Nucl Med Mol Imaging 2017 Jul 22. Epub 2017 Jul 22.
    Department of Advanced Biomedical Sciences, University Federico II, Naples, Italy.
    Purpose: Cardiac sympathetic denervation may be detectable in patients with Anderson-Fabry disease (AFD), suggesting its usefulness for early detection of the disease. However, the relationship between sympathetic neuronal damage measured by (123)I-metaiodobenzylguanidine (MIBG) imaging with myocardial fibrosis on cardiac magnetic resonance (CMR) is still unclear.

    Methods: Cardiac sympathetic innervation was assessed by (123)I-MIBG single-photon emission computed tomography (SPECT) in 25 patients with genetically proved AFD. Read More

    Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease.
    Mol Genet Metab 2017 Jul 5. Epub 2017 Jul 5.
    ARCHIMED Life Science, Leberstrasse 20, 1110 Vienna, Austria. Electronic address:
    Background: Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the α-galactosidase A (GLA) gene causing deficiency of α-galactosidase A which results in progressive glycosphingolipid accumulation, especially globotriaosylceramide (Gb3), in body liquids and lysosomes. In a large cohort of FD patients, we aimed to establish genotype/phenotype relations as indicated by serum LysoGb3 (deacylated Gb3).

    Methods: In 69 consecutive adult FD patients (males: n=28 (41%)) with a GLA-mutation confirmed diagnosis, we conducted a multidisciplinary clinical characterization during their routine annual examinations, and measured serum LysoGb3 levels by high-sensitive electrospray ionization liquid chromatography tandem mass spectrometry. Read More

    Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.
    J Pediatr 2017 Jul 17. Epub 2017 Jul 17.
    Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL; Division of Laboratory Services, Tennessee Department of Health, Nashville, TN.
    Objectives: To assess the outcomes of newborn screening for 5 lysosomal storage disorders (LSDs) in the first cohort of infants tested in the state of Illinois.

    Study Design: Tandem mass spectrometry was used to assay for the 5 LSD-associated enzymes in dried blood spot specimens obtained from 219 973 newborn samples sent to the Newborn Screening Laboratory of the Illinois Department of Public Health in Chicago.

    Results: The total number of cases with a positive diagnosis and the incidence for each disorder were as follows: Fabry disease, n = 26 (1 in 8454, including the p. Read More

    Recommendations for the inclusion of Fabry disease as a rare febrile condition in existing algorithms for fever of unknown origin.
    Intern Emerg Med 2017 Jul 19. Epub 2017 Jul 19.
    Unit of Immunology, Rheumatology, Allergy and Rare Diseases (UnIRAR), IRCCS San Raffaele Hospital, Vita-Salute San Raffaele University, Milan, Italy.
    Fever of unknown origin (FUO) is a rather rare clinical syndrome representing a major diagnostic challenge. The occurrence of more than three febrile attacks with fever-free intervals of variable duration during 6 months of observation has recently been proposed as a subcategory of FUO, Recurrent FUO (RFUO). A substantial number of patients with RFUO have auto-inflammatory genetic fevers, but many patients remain undiagnosed. Read More

    Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.
    Medicine (Baltimore) 2017 Jul;96(29):e7387
    aDepartment of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine bAsan Institute for Life Sciences cMedical Genetics Center, Asan Medical Center Children's Hospital, Seoul dDepartment of Pediatrics, Pusan National University Children's Hospital eDepartment of Neurology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan fDepartment of Pediatrics, Seoul National University Children's Hospital, Seoul gDepartment of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine, Suwon hDepartment of Pediatrics, College of Medicine, Soonchunhyang University, Bucheon Hospital, Bucheon iDepartment of Pediatrics, College of Medicine, Soonchunhyang University, Seoul Hospital, Seoul jDepartment of Pediatrics, Chonnam National University Hwasun Hospital, Hwasun kDepartment of Pediatrics, Chungnam National University Hospital, Daejeon lDepartment of Cardiology, Bucheon Sejong Hospital, Bucheon mDepartment of Cardiology, Kyung Hee University Hospital nDepartment of Cardiology, Yonsei University Severance Hospital oDepartment of Nephrology, Chung-Ang University Hospital pDepartment of Cardiology, Eulji University Hospital, Seoul qDepartment of Nephrology, Kyungpook National University Hospital, Daegu rDivision of Nephrology, Department of Internal Medicine, Dankook University Hospital, Dankook University, College of Medicine, Cheonan sDepartment of Cardiology, Inje University Busan Paik Hospital, Busan, Republic of Korea.
    Fabry disease is a rare X-linked lysosomal storage disorder caused by an α-galactosidase A deficiency. The progressive accumulation of globotriaosylceramide (GL-3) results in life-threatening complications, including renal, cardiac, and cerebrovascular diseases. This study investigated the phenotypic and molecular spectra of GLA mutations in Korean patients with Fabry disease using a nationwide survey. Read More

    Different renal phenotypes in related adult males with Fabry disease with the same classic genotype.
    Mol Genet Genomic Med 2017 Jul 8;5(4):438-442. Epub 2017 May 8.
    Neurology DepartmentInfermi HospitalRiminiItaly.
    Background: Fabry disease related patients with classical mutation usually exhibit similar severe phenotype especially concerning renal manifestation.

    Methods: A dry blood spot screening (DBS) and the DNA analysis has been performed in a 48-year-old man (Patient 1) because of paresthesia.

    Results: The DBS revealed absent leukocyte α-Gal A enzyme activity while DNA analysis identified the I354K mutation. Read More

    Hereditary Renal Diseases.
    Semin Nephrol 2017 Jul;37(4):354-361
    Division of Nephrology, Department of Medicine, Albert Einstein College of Medicine, Jacobi Medical Center, Bronx, NY.
    Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. Technologic advances have improved our ability to perform genetic diagnosis and enhanced our understanding of renal and syndromic diseases. In this article, we review the genetics of renal diseases, including common monogenic diseases such as polycystic kidney disease, Alport syndrome, and Fabry disease, as well as complex disorders such as congenital anomalies of the kidney and urinary tract. Read More

    Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group.
    Mol Genet Metab Rep 2017 Sep 22;12:85-91. Epub 2017 Jun 22.
    U.O.C. Cardiologia 2, Ospedale San Camillo-Forlanini, Rome, Italy.
    Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introduction of Enzyme Replacement Therapy (ERT) resulted in a variety of clinical benefits, life-long intravenous (IV) treatment with ERT with an every other week schedule, may interfere with daily life activities and impact on QoL. We report here a multicentric, observational, longitudinal data analysis on a large cohort of 85 Italian FD patients (45 males, 40 females) from 11 out of 20 Italian regions, who received a cumulative number of 4269 home infusions of agalsidase alfa. Read More

    Lucerastat, an iminosugar for substrate reduction therapy: Tolerability, pharmacodynamics, and pharmacokinetics in patients with Fabry disease on enzyme replacement.
    Clin Pharmacol Ther 2017 Jul 12. Epub 2017 Jul 12.
    Fabry Center for Interdisciplinary Therapy (FAZiT), Comprehensive Heart Failure Center (CHFC) and Department of Internal Medicine I, Divisions of Cardiology and Nephrology, University Hospital Würzburg, Oberdürrbacherstrasse 6, 97080, Würzburg, Germany.
    Lucerastat is a glucosylceramide synthase inhibitor aimed at reducing production of glycosphingolipids (GSLs), including those accumulating in Fabry disease (FD). The safety, tolerability, pharmacodynamics, and pharmacokinetics of oral lucerastat were evaluated in an exploratory study in FD patients. In this single-center, open-label, randomized study, 10 subjects received lucerastat 1000 mg b. Read More

    Evolution of cardiac pathology in classic Fabry disease: Progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophy‬‬‬‬‬‬‬‬.
    Int J Cardiol 2017 Jun 23. Epub 2017 Jun 23.
    Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States. Electronic address:
    Background: Fabry disease, an X-linked lysosomal storage disease, results from deficient α-galactosidase A (α-GalA) activity and the systemic accumulation of α-galactosyl-terminated glycosphingolipids. Two major phenotypes, "Classic" and "Later-Onset", lead to renal failure, and/or cardiac disease, and early demise. To date, the evolution and progression of the cardiac pathology and resultant clinical manifestations in family members of phenotype have not been well characterized. Read More

    Overview of immune abnormalities in lysosomal storage disorders.
    Immunol Lett 2017 Aug 4;188:79-85. Epub 2017 Jul 4.
    Centro Italiano Macula, Rome, Italy.
    The critical relevance of the lysosomal compartment for normal cellular function can be proved by numbering the clinical phenotypes that arise in lysosomal storage disorders (LSDs), a group of around 70 different monogenic autosomal or X-linked syndromes, caused by specific lysosomal enzyme deficiencies: all LSDs are characterized by progressive accumulation of heterogeneous biologic materials in the lysosomes of various parts of the body such as viscera, skeleton, skin, heart, and central nervous system. At least a fraction of LSDs has been associated with mixed abnormalities involving the immune system, while some patients with LSDs may result more prone to autoimmune phenomena. A large production of proinflammatory cytokines has been observed in Gaucher and Fabry diseases, and wide different autoantibody production has been also reported in both. Read More

    Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease.
    J Intern Med 2017 Jul 6. Epub 2017 Jul 6.
    Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology, University Hospital Muenster, Muenster, Germany.
    Background: Inhibitory antibodies towards enzyme replacement therapy (ERT) are associated with disease progression and poor outcome in affected male patients with lysosomal disorders such as Fabry disease (FD). However, little is known about the impact of immunosuppressive therapy on ERT inhibition in these FD patients.

    Methods: In this retrospective study, we investigated the effect of long-term immunosuppression on ERT inhibition in male FD patients (n=26) receiving immunosuppressive therapy due to kidney (n=24) or heart (n=2) transplantation. Read More

    [Fabry's disease: an example of cardiorenal syndrome type 5].
    G Ital Nefrol 2017 Mar;34(Suppl 69):131-141
    International Renal Research Institute of Vicenza (IRRIV), Vicenza, Italy.
    Fabry's disease (FD) is a severe congenital metabolic disorder characterized by the deficient activity of lysosomal exoglycohydrolase alpha-galactosidase, characterized by glycosphingolipid deposition in several cells, such as capillary endothelial cells, renal, cardiac, and nerve cells. As a systemic disease leading to a contemporaneous myocardial and renal dysfunction, FD might be an example of cardiorenal syndrome type 5 (CRS-5). Kidney damage is commonly characterized by proteinuria, isosthenuria and altered tubular function when occurs at the second-third decade, azotemia and end-stage renal disease in third-fifth decade. Read More

    Human Alpha Galactosidases Transiently Produced in Nicotiana benthamiana Leaves: New Insights in Substrate Specificities with Relevance for Fabry Disease.
    Front Plant Sci 2017 21;8:1026. Epub 2017 Jun 21.
    Department of Medical Biochemistry, Leiden Institute of ChemistryLeiden, Netherlands.
    Deficiency of α-galactosidase A (α-GAL) causes Fabry disease (FD), an X-linked storage disease of the glycosphingolipid globtriaosylcerammide (Gb3) in lysosomes of various cells and elevated plasma globotriaosylsphingosine (Lyso-Gb3) toxic for podocytes and nociceptive neurons. Enzyme replacement therapy is used to treat the disease, but clinical efficacy is limited in many male FD patients due to development of neutralizing antibodies (Ab). Therapeutic use of modified lysosomal α-N-acetyl-galactosaminidase (α-NAGAL) with increased α-galactosidase activity (α-NAGAL(EL)) has therefore been suggested. Read More

    Fabry disease.
    J Echocardiogr 2017 Jul 3. Epub 2017 Jul 3.
    Department of Cardiovascular Medicine and Hypertension, Graduate School of Medical and Dental Sciences, Kagoshima University, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima, Japan.
    Fabry disease resulting from a deficiency of α-galactosidase A leads to the accumulation of globotriaosylceramide in various organs. Because the disease is an X-linked recessive disorder, males tend to develop more symptoms and more severe symptoms than females. There are also some variants of Fabry disease, and cardiac variant (cardiac Fabry disease) has the dysfunctions only in heart. Read More

    Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
    PLoS One 2017 3;12(7):e0180581. Epub 2017 Jul 3.
    IRCCS Institute of Neurological Sciences, Bologna, Italy.
    Background: Fabry Disease (FD) is characterized by globotriaosylceramide-3 (Gb3) accumulation in several tissues and a small fibre neuropathy (SFN), however the underlying mechanisms are poorly known. This study aimed to: 1) ascertain the presence of Gb3 deposits in skin samples, by an immunofluorescence method collected from FD patients with classical GLA mutations or late-onset FD variants or GLA polymorphisms; 2) correlate skin GB3 deposits with skin innervation.

    Methods: we studied 52 genetically-defined FD patients (32 with classical GLA mutations and 20 with late-onset variants or GLA polymorphisms), 15 patients with SFN associated with a specific cause and 22 healthy controls. Read More

    Clinical Features, Diagnosis, and Management of Patients With Anderson-Fabry Cardiomyopathy.
    Can J Cardiol 2017 Jul 4;33(7):883-897. Epub 2017 May 4.
    Division of Cardiology, Department of Medicine, University of Alberta, Edmonton, Alberta, Canada; Mazankowski Alberta Heart Institute, University of Alberta, Edmonton, Alberta, Canada. Electronic address:
    Anderson-Fabry disease (AFD) is an X-linked recessive, multisystem disease of lysosomal storage. A mutation in the gene encoding the hydrolase enzyme α-galactosidase A results in its deficiency, or complete absence of activity. Subsequent progressive intracellular accumulation of glycosphingolipids, predominantly globotriaosylceramide, in various tissues, results in progressive organ dysfunction and failure, most commonly affecting the kidneys, nervous system, skin, eyes, vascular endothelium, and the heart. Read More

    Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease.
    Mol Genet Metab 2017 Jun 17. Epub 2017 Jun 17.
    Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA. Electronic address:
    Background: Fabry disease (FD), an X-linked lysosomal storage disorder, results from the deficient activity of α-galactosidase A (α-Gal A) and the accumulation of its substrates, globotriaosylceramide (Gb3) and its deacylated derivative, globotriaosyl-sphingosine (Lyso-Gb3). Here, we compared the levels of Lyso-Gb3 in dried blood spots (DBS) and sera in affected males and heterozygotes with the "Classic" and "Later-Onset" phenotypes.

    Methods: The Lyso-Gb3 concentrations in DBS and sera from 56 FD patients were determined by highly sensitive electrospray ionization liquid chromatography tandem mass spectrometry. Read More

    Affective and cognitive behavior in the alpha-galactosidase A deficient mouse model of Fabry disease.
    PLoS One 2017 29;12(6):e0180601. Epub 2017 Jun 29.
    Department of Neurology, University of Würzburg, Würzburg, Germany.
    Fabry disease is an X-linked inherited lysosomal storage disorder with intracellular accumulation of globotriaosylceramide (Gb3) due to α-galactosidase A (α-Gal A) deficiency. Fabry patients frequently report of anxiety, depression, and impaired cognitive function. We characterized affective and cognitive phenotype of male mice with α-Gal A deficiency (Fabry KO) and compared results with those of age-matched male wildtype (WT) littermates. Read More

    Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies.
    Mol Genet Metab Rep 2017 Jun 1;11:75-80. Epub 2016 Oct 1.
    Neurology Department, Fundación para el Estudio de las Enfermedades Neurometabólicas, Buenos Aires, Argentina.
    Fabry disease (FD) is an X-linked lysosomal storage disorder caused by loss of function mutations in the GLA gene at Xq22 with subsequent functional deficiency of alpha-galactosidase A, resulting in the accumulation of globotriaosylceramide (GL-3 or Gb3) in multiple cells types throughout the body. As with other rare metabolic disorders, little is known about the incidence of malignancies in these populations and the relationship to the underlying disease, if any. We report the occurrence of meningioma in four female patients with Fabry disease. Read More

    Newborn screening for Fabry disease in the north-west of Spain.
    Eur J Pediatr 2017 Aug 23;176(8):1075-1081. Epub 2017 Jun 23.
    Rare Diseases & Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Hospital Álvaro Cunqueiro, Bloque técnico, pl2 zona A, Estrada Clara Campoamor 341, Vigo, 36312, Pontevedra, Spain.
    Fabry disease is an X-linked lysosomal storage disorder caused by the impairment of α-galactosidase A. Enzyme replacement therapy is available to treat patients, who often experience delayed diagnosis. A newborn screening for Fabry disease was performed to study the prevalence of the pathology and to evaluate the possibility to implement the test in systematic screenings. Read More

    Switch from agalsidase beta to agalsidase alfa in the enzyme replacement therapy of patients with Fabry disease in Latin America.
    Medicina (B Aires) 2017 ;77(3):173-179
    Centro de Estudio de Enfermedades Lisosomales, Hospital Nacional Prof. Dr. Alejandro Posadas, Haedo, Argentina. E-mail:
    There are currently two available enzyme replacement therapies for Fabry disease and little information regarding efficacy and safety of switching therapies. Between 2009 and 2012 there was a worldwide shortage of agalsidase beta and patients on that enzyme were switched to agalsidase alfa. This retrospective observational study assessed a 2-year period of efficacy and safety in a population of Fabry patients, in Argentina (30 patients) and Venezuela (3 patients), who switched therapies from algasidase beta to agalsidase alfa. Read More

    Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease.
    Clin J Am Soc Nephrol 2017 Jun 16. Epub 2017 Jun 16.
    Departments of Medicine.
    Background And Objectives: Dose-dependent clearing of podocyte globotriaosylceramide has previously been shown in patients with classic Fabry disease treated with enzyme replacement. Our study evaluates the dose-dependent effects of agalsidase therapy in serial kidney biopsies of patients treated for up to 14 years.

    Design, Setting, Participants, & Measurements: Twenty patients with classic Fabry disease (12 men) started enzyme replacement therapy at a median age of 21 (range =7-62) years old. Read More

    Contribution of Established Stroke Risk Factors to the Burden of Stroke in Young Adults.
    Stroke 2017 Jul 15;48(7):1744-1751. Epub 2017 Jun 15.
    From the Institute of Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, Germany (A.A.); Center for Stroke Research (U.G., B.S.) and Department of Biostatistics and Clinical Epidemiology (U.G.), Charité-Universitätsmedizin Berlin, Germany; Medical Faculty, Albrecht Kossel Institute for Neuroregeneration, University of Rostock, Germany (A.R.); Department of Clinical Sciences, Neurology, Skane University Hospital, Lund University, Sweden (B.N.); and Department of Epidemiology and Health Monitoring, Robert Koch Institute, Berlin, Germany (M.A.B.).
    Background And Purpose: As stroke in young adults is assumed to have different etiologies and risk factors than in older populations, the aim of this study was to examine the contribution of established potentially modifiable cardiovascular risk factors to the burden of stroke in young adults.

    Methods: A German nationwide case-control study based on patients enrolled in the SIFAP1 study (Stroke In Young Fabry Patients) 2007 to 2010 and controls from the population-based GEDA study (German Health Update) 2009 to 2010 was performed. Cases were 2125 consecutive patients aged 18 to 55 years with acute first-ever stroke from 26 clinical stroke centers; controls (age- and sex-matched, n=8500, without previous stroke) were from a nationwide community sample. Read More

    Biomarkers for diagnosing and staging of Fabry disease.
    Curr Med Chem 2017 Jun 16. Epub 2017 Jun 16.
    Department of Medicine, Divisions of Cardiology and Nephrology, Comprehensive Heart Failure Center, Fabry Center for Interdisciplinary Therapy, University of Würzburg. Germany.
    Background: Fabry disease is a X-linked lysosomal storage disorder caused by deficient activity of α -galactosidase A which leads to progressive intracellular accumulation of globotriaosylceramide in tissues and organs including heart, kidney, vascular endothelium, the nervous system, the eyes and the skin. Cardiac involvement is common, leads to fatal complications and is mainly responsible for reduced life expectancy in Fabry disease. The exact staging of disease progression and timely initiation of treatment is essential in Fabry disease. Read More

    Lucerastat, an Iminosugar for Substrate Reduction Therapy: Pharmacokinetics, Tolerability, and Safety in Subjects With Mild, Moderate, and Severe Renal Function Impairment.
    J Clin Pharmacol 2017 Jun 15. Epub 2017 Jun 15.
    Department of Clinical Pharmacology, Actelion Pharmaceuticals Ltd, 4123 Allschwil, Switzerland.
    Lucerastat, an inhibitor of glucosylceramide synthase, has the potential for substrate reduction therapy in glycosphingolipid storage disorders such as Fabry disease. In pharmacokinetic studies in rats, dogs, and healthy subjects, the main route of elimination was renal. The pharmacokinetics, tolerability, and safety of lucerastat were evaluated in subjects with mild (group A), moderate (group B), and severe (group C) renal impairment. Read More

    Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.
    Oncotarget 2017 May 29. Epub 2017 May 29.
    U.O.C di Medicina Interna con Stroke Care, Dipartimento Biomedico di Medicina Interna e Specialistica (Di.Bi.M.I.S), University of Palermo, Palermo, Italy.
    Background: Anderson-Fabry disease (AFD) is an inborn lysosomal enzymopathy resulting from the deficient or absent activity of the lysosomal exogalactohydrolase, α-galactosidase A. This deficiency, results in the altered metabolism of glycosphingolipids which leads to their accumulation in lysosomes, thus to cellular and vascular dysfunction. To date, numerous mutations (according to recent data more than 1000 mutations) have been reported in the GLA intronic and exonic mutations. Read More

    Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan.
    Mol Genet Metab 2017 Jun 8. Epub 2017 Jun 8.
    Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Life Sciences and Institute of Genome Sciences, National Yang-Ming University, Taipei, Taiwan; Department of Pediatrics, Taipei City Hospital, Renai Branch, Taipei, Taiwan. Electronic address:
    Fabry disease is an X-linked disorder resulted from deficiency of α-galactosidase A (GLA) activity. In Taiwan, a total of 792,247 newborns were screened from 2008 to 2014 in two newborn screening centers, and 13 variants of uncertain significance (VOUS) in the GLA gene were identified. To determine whether these variants were pathogenic or not, functional, biochemical, clinical and pedigree analyses were performed. Read More

    Towards accurate and precise T 1 and extracellular volume mapping in the myocardium: a guide to current pitfalls and their solutions.
    MAGMA 2017 Jun 12. Epub 2017 Jun 12.
    Royal Brompton Hospital and Imperial College London, Sydney Street, London, SW3 6NP, UK.
    Mapping of the longitudinal relaxation time (T 1) and extracellular volume (ECV) offers a means of identifying pathological changes in myocardial tissue, including diffuse changes that may be invisible to existing T 1-weighted methods. This technique has recently shown strong clinical utility for pathologies such as Anderson-Fabry disease and amyloidosis and has generated clinical interest as a possible means of detecting small changes in diffuse fibrosis; however, scatter in T 1 and ECV estimates offers challenges for detecting these changes, and bias limits comparisons between sites and vendors. There are several technical and physiological pitfalls that influence the accuracy (bias) and precision (repeatability) of T 1 and ECV mapping methods. Read More

    Prevalence of chronic kidney disease in fabry disease patients: Multicenter cross sectional study in Argentina.
    Mol Genet Metab Rep 2017 Sep 23;12:41-43. Epub 2017 May 23.
    Unidad de Terapia Intensiva del Hospital Dr. Enrique Erill de Escobar, Buenos Aires, Argentina.
    Nephropathy is one of the major complications of Fabry Disease (FD) and mainly includes reduced glomerular filtration rate (GFR) and proteinuria. Despite the frequency, scarce information exists regarding the frequency of CKD as well as other related complications in FD patients in Argentina. The aim of the study was to measure the prevalence of CKD at diagnosis of FD as well as to describe other related conditions in a large cohort of patients with FD. Read More

    Lentivector Iterations and Pre-Clinical Scale-Up/Toxicity Testing: Targeting Mobilized CD34(+) Cells for Correction of Fabry Disease.
    Mol Ther Methods Clin Dev 2017 Jun 12;5:241-258. Epub 2017 May 12.
    University Health Network, Toronto, ON M5G 1L7, Canada.
    Fabry disease is a rare lysosomal storage disorder (LSD). We designed multiple recombinant lentivirus vectors (LVs) and tested their ability to engineer expression of human α-galactosidase A (α-gal A) in transduced Fabry patient CD34(+) hematopoietic cells. We further investigated the safety and efficacy of a clinically directed vector, LV/AGA, in both ex vivo cell culture studies and animal models. Read More

    Fabry disease: diagnostic methods in nephrology practice.
    Clin Nephrol 2017 Supplement 1;88(13):44-47
    Fabry disease (FD; OMIM 301500) is a rare X-linked systemic disease caused by a mutation of the GLA gene. Consequently, there is very low, or even absent, activity of the lysosomal enzyme α-galactosidase A (α-Gal A), resulting in the progressive accumulation of glycosphingolipids (predominantly, globotriaosylceramide (GL-3)) in various cells of different organs. Chronic progressive proteinuric kidney disease is one of the hallmarks of this disease, and it constitutes an important component of this condition's clinical picture. Read More

    Paricalcitol as an Antiproteinuric Agent Can Result in the Deterioration of Renal and Heart Function in a Patient with Fabry Disease.
    Am J Case Rep 2017 Jun 9;18:644-648. Epub 2017 Jun 9.
    Department of Internal Medicine, General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia.
    BACKGROUND Fabry disease is a rare and progressive X-linked inherited disorder of glycosphingolipid metabolism that is due to deficient or absent lysosomal a-galactosidase A activity. Among its other associated signs and symptoms, patients present with renal failure and proteinuria, which are markers of disease progression. Renin-angiotensin-aldosterone system (RAAS) blockers can slow the progression of chronic renal failure and proteinuria. Read More

    Prevalence of Fabry Disease and Outcomes in Young Canadian Patients With Cryptogenic Ischemic Cerebrovascular Events.
    Stroke 2017 Jul 8;48(7):1766-1772. Epub 2017 Jun 8.
    From the Division of Neurology, Department of Medicine, Hôpital du Sacré-Cœur de Montréal, Quebec, Canada (S.L.); Department of Neurosciences, Faculty of Medicine, University of Montreal, Quebec, Canada (S.L.); Stroke Outcomes Research Unit, Division of Neurology, Department of Medicine (G.S., D.S.), Department of Health Policy, Management and Evaluation (G.S.), Applied Health Research Centre (G.L., K.P.), St. Michael's Hospital, Toronto, Ontario, Canada; Institute of Health Policy, Management and Evaluation, University of Toronto, Ontario, Canada (G.L.); and Department of Neurology, University of North Dakota, Grand Forks (D.F.M.).
    Background And Purpose: Previous studies reported Fabry disease in 0% to 4% of young patients with cryptogenic ischemic stroke (IS). We sought to determine the prevalence of Fabry and outcomes among young Canadians with cryptogenic IS or transient ischemic attack (TIA).

    Methods: We prospectively enrolled individuals aged 18 to 55 with IS or speech or motor TIA, and no cause identified despite predetermined investigation. Read More

    Urinary mulberry cells and mulberry bodies are useful tool to detect late-onset Fabry disease.
    CEN Case Rep 2017 Jun 7. Epub 2017 Jun 7.
    Department of Nephrology, Tokyo Medical University Ibaraki Medical Center, 3-20-1 Chuo, Ami, Inashiki, 300-0395, Ibaraki, Japan.
    Fabry disease is an X-linked lysosomal storage disorder caused by a lack of α-galactosidase A activity, which leads to the accumulation of globotriaosylceramide in various organs. A complete lack of α-galactosidase A activity in a hemizygous male is the classical phenotype, and some hemizygous males show primarily cardiac and/or renal symptoms that appear in adulthood; this is called the variant type or the late-onset type. The kidney and heart are the major target organs, with damage to these organs related to mortality. Read More

    Induced pluripotent stem cell models of lysosomal storage disorders.
    Dis Model Mech 2017 Jun;10(6):691-704
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Induced pluripotent stem cells (iPSCs) have provided new opportunities to explore the cell biology and pathophysiology of human diseases, and the lysosomal storage disorder research community has been quick to adopt this technology. Patient-derived iPSC models have been generated for a number of lysosomal storage disorders, including Gaucher disease, Pompe disease, Fabry disease, metachromatic leukodystrophy, the neuronal ceroid lipofuscinoses, Niemann-Pick types A and C1, and several of the mucopolysaccharidoses. Here, we review the strategies employed for reprogramming and differentiation, as well as insights into disease etiology gleaned from the currently available models. Read More

    Efficacy and safety of enzyme-replacement-therapy with agalsidase alfa in 36 treatment-naïve Fabry disease patients.
    BMC Pharmacol Toxicol 2017 Jun 7;18(1):43. Epub 2017 Jun 7.
    LSD Center, Nagoya Central Hospital, 3-7-7 Taiko, Nakamura-ku, Nagoya, 453-0801, Japan.
    Background: Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the α-galactosidase A gene mutations. Enzyme-replacement-therapy (ERT) products for FD currently used include agalsidase alfa and agalsidase beta. There are many reports on efficacy and safety of ERT. Read More

    Peripheral nerve involvement in Fabry's disease: Which investigations? A case series and review of the literature.
    Rev Neurol (Paris) 2017 Jun 1. Epub 2017 Jun 1.
    Centre de référence des maladies neuromusculaires et de la SLA, CHU La Timone, AP-HM, 13005 Marseille, France.
    Background: Peripheral nerve system (PNS) involvement is common in Fabry's disease (FD), predominantly affecting the small nerve fibers that are difficult to investigate with conventional electrophysiological methods.

    Patients And Methods: Eighteen patients followed for Fabry's disease underwent a prospective series of electroneurophysiological explorations, including a study of the cardiac parasympathetic autonomic nervous system (ANS) and electrochemical skin conductance (ESC) tests. Data were compared with those obtained in 18 matched healthy controls. Read More

    Fabry heterozygote mimicking multiple sclerosis.
    BMJ Case Rep 2017 Jun 2;2017. Epub 2017 Jun 2.
    Department of Neurology, Sir Charles Gairdner Hospital, Western Australian Neuromuscular Research Institute, Nedlands, Western Australia, Australia.
    Fabry's disease (FD) is a recognised mimic of multiple sclerosis (MS). It is an X-linked storage lysosomal disorder with deficiency of α-galactosidase A and enzyme replacement therapy is available. Patients with FD may satisfy modified McDonald criteria if the diagnosis of FD has not been pursued. Read More

    ZnO nanoflower based sensitive nano-biosensor for amyloid detection.
    Mater Sci Eng C Mater Biol Appl 2017 Sep 27;78:960-968. Epub 2017 Apr 27.
    Medical Bionanotechnology Laboratory, Faculty of Allied Health Sciences, Chettinad Academy of Research and Education (CARE), Chettinad Health City, Kelambakkam, Chennai 603103, India. Electronic address:
    Zinc oxide (ZnO) is a semiconductor metal oxide nanoparticle with inherent optical properties. Among the different zinc oxide nanostructures, nanoflowers have greater surface area. Utilizing this property a reagentless biosensor has been developed for the detection of beta amyloids, a hallmark of neurodegenerative diseases like Alzheimer's disease, Creutzfeldt-Jakob Syndrome, insulin dependent type II diabetes etc. Read More

    Hearing loss in children with Fabry disease.
    J Inherit Metab Dis 2017 May 31. Epub 2017 May 31.
    Department of Endocrinology and Metabolism and Amsterdam Lysosome Center 'Sphinx', Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
    Background: Hearing loss (HL) is a well-known feature of Fabry disease (FD). Its presence and characteristics have mainly been studied in adult patients, while only limited data are available on the presence and degree of HL in children with FD. This prompted us to study hearing sensitivity in pediatric FD patients. Read More

    Arrhythmia and Clinical Cardiac Findings in Children With Anderson-Fabry Disease.
    Am J Cardiol 2017 Jul 27;120(2):251-255. Epub 2017 Apr 27.
    Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. Electronic address:
    Anderson-Fabry Disease (AFD) is a lysosomal storage disorder that results in progressive cardiovascular hypertrophy, scarring, and arrhythmia burden; yet, the early cardiac phenotype of AFD is still poorly defined. To further characterize early cardiac features in AFD, we evaluated electrocardiographic and clinical findings contained in a local cohort of pediatric AFD patients and arrhythmia data in children enrolled in the Fabry Registry. Twenty-six local patients aged <18 years were identified (average age 9. Read More

    Echocardiographic and clinical findings in patients with Fabry disease during long-term enzyme replacement therapy: a nationwide Danish cohort study.
    Scand Cardiovasc J 2017 Aug 25;51(4):207-216. Epub 2017 May 25.
    e Department of Cardiology , Copenhagen University Hospital, Rigshospitalet , Copenhagen , Denmark.
    Objectives: In patients with Fabry disease (FD), left ventricular hypertrophy and arrhythmias are frequently observed and cardiac involvement is the leading cause of death. Long-term efficacy of enzyme replacement therapy (ERT) on cardiac involvement is unclear. We assessed and compared long-term progression of cardiac involvement according to ERT and non-ERT. Read More

    New biomarkers defining a novel early stage of Fabry nephropathy: A diagnostic test study.
    Mol Genet Metab 2017 Jun 13;121(2):162-169. Epub 2017 May 13.
    Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust and University College London, London, United Kingdom.
    Background: Renal involvement in Fabry disease is a major determinant of overall disease prognosis and early enzyme replacement therapy seems effective in preventing progression of kidney injury. Gb3 storage, glomerular sclerosis and tubulo-interstitial fibrosis may occur with minimal or no changes on standard renal tests, hence alternative markers of renal dysfunction are crucial. In this study we compared several biomarkers with albuminuria in the identification of incipient Fabry nephropathy and their diagnostic accuracy to identify chronic kidney disease (CKD) stage≥2. Read More

    Expression of uPAR in Urinary Podocytes of Patients with Fabry Disease.
    Int J Nephrol 2017 24;2017:1287289. Epub 2017 Apr 24.
    IFIBIO Houssay, CONICET, Physiopathology, Pharmacy and Biochemistry Faculty, Universidad de Buenos Aires, Buenos Aires, Argentina.
    Background. Despite enzyme replacement therapy, Fabry nephropathy still progresses. Podocyturia is an irreversible event that antedates proteinuria and leads to chronic renal failure. Read More

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