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    3915 results match your criteria Angiokeratoma Corporis Diffusum Fabry Syndrome

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    The p.Arg118Cys Variant in the GLA Gene Does not Cause Fabry Disease. More Evidence.
    Rev Esp Cardiol (Engl Ed) 2017 Sep 20. Epub 2017 Sep 20.
    Unidad de Cardiopatías Familiares, Servicio de Cardiología, Complexo Hospitalario Universitario de A Coruña, Instituto de Investigación Biomédica de A Coruña (INIBIC), Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Spain. Electronic address:

    Severe hypertrophic cardiomyopathy in a patient with atypical Anderson-Fabry disease.
    Future Cardiol 2017 Sep 22. Epub 2017 Sep 22.
    Division of Cardiology Second University of Naples - AO dei Colli, Presidio Monaldi, Naples, 80121, Italy.
    Aim: Anderson-Fabry disease (AFD) is a hereditary disorder caused by a deficiency in the lysosomal enzyme α-galactosidase A which causes dysfunctions in multiple organ systems. Cardiac manifestation includes left ventricular hypertrophy, thickening of the valves, conduction disturbances and in the late phase, extensive areas of myocardial fibrosis with increased risk of sudden cardiac death. Case example: A case of AFD with exclusive cardiac involvement is described. Read More

    Integrative Systems Biology Investigation of Fabry Disease.
    Diseases 2016 Nov 15;4(4). Epub 2016 Nov 15.
    Institute of Cardiovascular and Medical Sciences, BHF Glasgow Cardiovascular Research Centre, University of Glasgow, 126 University Place, Glasgow, G12 8TA, UK.
    Fabry disease (FD) is a rare X-linked recessive genetic disorder caused by a deficient activity of the lysosomal enzyme alpha-galactosidase A (GLA) and is characterised by intra-lysosomal accumulation of globotriaosylceramide (Gb3). We performed a meta-analysis of peer-reviewed publications including high-throughput omics technologies including naïve patients and those undergoing enzyme replacement therapy (ERT). This study describes FD on a systems level using a systems biology approach, in which molecular data sourced from multi-omics studies is extracted from the literature and integrated as a whole in order to reveal the biochemical processes and molecular pathways potentially affected by the dysregulation of differentially expressed molecules. Read More

    Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now.
    Diseases 2017 Jun 11;5(2). Epub 2017 Jun 11.
    Service of Nephrology, Centro Hospitalar de Vila Nova de Gaia/Espinho, 4434-502 Vila Nova de Gaia, Portugal.
    Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. Read More

    The role of epigenetics in lysosomal storage disorders: Uncharted territory.
    Mol Genet Metab 2017 Aug 1. Epub 2017 Aug 1.
    Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, United States.
    The study of the contribution of epigenetic mechanisms, including DNA methylation, histone modifications, and microRNAs, to human disease has enhanced our understanding of different cellular processes and diseased states, as well as the effect of environmental factors on phenotypic outcomes. Epigenetic studies may be particularly relevant in evaluating the clinical heterogeneity observed in monogenic disorders. The lysosomal storage disorders are Mendelian disorders characterized by a wide spectrum of associated phenotypes, ranging from neonatal presentations to symptoms that develop in late adulthood. Read More

    [Fabry disease: An overlooked diagnosis in adult cardiac patients].
    Turk Kardiyol Dern Ars 2017 Sep;45(6):549-555
    Department of Cardiology, Ege University Faculty of Medicine, İzmir, Turkey.
    Fabry disease is a rare, X-linked, lysosomal glycosphingolipid storage disorder. A deficiency of the enzyme alpha-galactosidase results in intracellular accumulation of globotriaosylceramide in multiple cell types, such as those of the nerves, kidneys, cardiac, and cutaneous tissues, leading to a multisystem disease. Male patients are more severely affected; however, heterozygous female patients may also be afflicted, though often the symptoms develop later. Read More

    A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women.
    Nephron 2017 Sep 12. Epub 2017 Sep 12.
    Department of Internal Medicine, Universidade Federal de Goiás, Goiânia, Brazil.
    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. Read More

    The influence of hospital volume on long-term oncological outcome after rectal cancer surgery.
    Int J Colorectal Dis 2017 Sep 7. Epub 2017 Sep 7.
    Department of Surgery, Academic Medical Center, Amsterdam, The Netherlands.
    Purpose: The association between hospital volume and outcome in rectal cancer surgery is still subject of debate. The purpose of this study was to assess the impact of hospital volume on outcomes of rectal cancer surgery in the Netherlands in 2011.

    Methods: In this collaborative research with a cross-sectional study design, patients who underwent rectal cancer resection in 71 Dutch hospitals in 2011 were included. Read More

    Fabry disease and incidence of cancer.
    Orphanet J Rare Dis 2017 Sep 6;12(1):150. Epub 2017 Sep 6.
    Royal Free London NHS Foundation Trust, London, UK.
    Background: Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including globotriaosylsphingosine (Lyso-Gb3). Increased cellular and plasma levels of Gb3 and Lyso-Gb3 affect multiple organs, with specific clinical consequences for the kidneys, heart and brain. There is growing evidence that alterations in glycosphingolipids may have an oncogenic role and this prompted a review of cases of cancer and benign lesions in a large single centre cohort of Fabry patients. Read More

    Fabry disease in children: a federal screening programme in Russia.
    Eur J Pediatr 2017 Sep 4. Epub 2017 Sep 4.
    Laboratory of Molecular Genetics and Cell Biology, Federal State Autonomous Institution "Scientific Center of Children's Health" of the Ministry of Health of the Russian Federation, Moscow, Russia.
    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. Read More

    Bedside Stereomicroscopy of Fabry Kidney Biopsies: An Easily Available Method for Diagnosis and Assessment of Sphingolipid Deposits.
    Nephron 2017 Aug 26. Epub 2017 Aug 26.
    Department of Medicine, Haukeland University Hospital, Bergen, Norway.
    Background/aims: A previous case report found stereomicroscopic changes typical for Fabry disease in a kidney biopsy. This case series evaluates an expanded diagnostic capacity of the method.

    Methods: Bedside stereomicroscopy was performed in a cross-sectional prospective study of 31 consecutive enzyme-treated or treatment-naïve male (n = 14) and female Fabry disease patients. Read More

    A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease.
    Mol Genet Metab 2017 Sep 19;122(1-2):121-125. Epub 2017 Aug 19.
    Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, 72 King William Road, North Adelaide, South Australia 5006, Australia; School of Medicine, University of Adelaide, Adelaide, South Australia 5005, Australia. Electronic address:
    Fabry disease (FD) results from impaired globotriaosylceramide (Gb3) catabolism, due to a deficiency of the lysosomal hydrolase, α-galactosidase A (α-GalA). As a direct consequence, the deacetylated derivative, globotriaosylsphingosine (lyso-Gb3), is produced and contemporary evidence exemplifies its use as a biomarker. Here we developed a simple method to enable quantification of lyso-Gb3 in just 0. Read More

    The pathophysiology of Fabry disease.
    Rev Clin Esp 2017 Aug 23. Epub 2017 Aug 23.
    Unidad de Enfermedades Minoritarias, Hospital Clínico Universitario Lozano Blesa, Zaragoza, España.
    Fabry disease is a lysosomal condition with systemic clinical expression, caused by the tissue deposit of globotriaosylceramide, due to a deficit in its degradation. As with most lysosomal diseases, the presence of a mutation in a gene does not explain the pathophysiological disorders shown by patients. We conducted a comprehensive review of the pathogenic mechanisms that occur in Fabry disease. Read More

    High yield process for the production of active human α-galactosidase a in CHO-K1 cells through lentivirus transgenesis.
    Biotechnol Prog 2017 Aug 25. Epub 2017 Aug 25.
    Universidad Nacional del Litoral, School of Biochemistry and Biological Sciences, Cell Culture Laboratory, Ciudad Universitaria, Paraje El Pozo, C.C. 242, Santa Fe, S3000ZAA, Argentina.
    Fabry disease is an X-linked recessive disorder caused by a deficiency in lysosomal α-Galactosidase A. Currently, two enzyme replacement therapies (ERT) are available. However, access to orphan drugs continues to be limited by their high price. Read More

    Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy.
    J Med Genet 2017 Aug 23. Epub 2017 Aug 23.
    Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
    Background: Fabry disease is characterised by the progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in vascular endothelial cells. Enzyme replacement therapy (ERT) clears this accumulation. We analysed plasma proteome profiles before and after ERT to characterise its molecular pathology. Read More

    Human dorsal root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy.
    Neurology 2017 Sep 23;89(12):1274-1282. Epub 2017 Aug 23.
    From the Department of Neuroradiology (T.G., P.B., M.P., M.K., J.K., S.H., M.B.), Neurological University Clinic, Heidelberg University Hospital; Department of Radiology (P.B.), German Cancer Research Institute, Heidelberg; Department of Neuroradiology (M.P.), Würzburg University Hospital; Department of Pediatrics (A.K., N.M.), University Medical Center Hamburg-Eppendorf; and Department of Neurology (V.-F.M.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
    Objective: To evaluate functional and morphometric magnetic resonance neurography of the dorsal root ganglion and peripheral nerve segments in patients with Fabry painful neuropathy.

    Methods: In this prospective study, the lumbosacral dorsal root ganglia and proximal peripheral nerve segments of the lower extremity were examined in 11 male patients with Fabry disease by a standardized 3T magnetic resonance neurography protocol. Volumes of L3 to S2 dorsal root ganglia, perfusion parameters of L5-S1 dorsal root ganglia and the spinal nerve L5, and the cross-sectional area of the proximal sciatic nerve were compared to healthy controls. Read More

    Fluorescent probes for selective protein labeling in lysosomes: a case of α-galactosidase A.
    FASEB J 2017 Aug 15. Epub 2017 Aug 15.
    Albrecht-Kossel-Institute for Neuroregeneration, Rostock University Medical Center, Rostock, Mecklenburg-Vorpommern, Germany; and
    Fluorescence-based live-cell imaging (LCI) of lysosomal glycosidases is often hampered by unfavorable pH and redox conditions that reduce fluorescence output. Moreover, most lysosomal glycosidases are low-mass soluble proteins that do not allow for bulky fluorescent protein fusions. We selected α-galactosidase A (GALA) as a model lysosomal glycosidase involved in Anderson-Fabry disease (AFD) for the current LCI approach. Read More

    T1 and T2 Mapping in Cardiology: "Mapping the Obscure Object of Desire".
    Cardiology 2017 Aug 17;138(4):207-217. Epub 2017 Aug 17.
    Onassis Cardiac Surgery Center, Athens, Greece.
    The increasing use of cardiovascular magnetic resonance (CMR) is based on its capability to perform biventricular function assessment and tissue characterization without radiation and with high reproducibility. The use of late gadolinium enhancement (LGE) gave the potential of non-invasive biopsy for fibrosis quantification. However, LGE is unable to detect diffuse myocardial disease. Read More

    Screening of Fabry disease in patients with end-stage renal disease of unknown etiology: the first Thailand study.
    J Biomed Res 2016 Oct;31(1):17-24
    Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.
    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. Read More

    Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.
    Circ Cardiovasc Genet 2017 Aug;10(4)
    From the Faculty of Medicine, University of Iceland, Reykjavik, Iceland (B.A., R.P., R.A., G.T.G.); Division of Cardiology (B.A., R.D.), Department of Genetics (R.A.), Division of Nephrology (R.P.), and Department of Radiology (M.G.), Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland; Department of Cardiology, Haukeland University Hospital, Bergen, Norway (B.A.); Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY (R.J.D., B.C., S.P.); Department of Genetics, Harvard Medical School, Boston, MA (P.T., M.A.B., J.G.S., C.E.S.); Division of Cardiovascular Medicine, Beth Israel Deaconess Medical Center, Boston, MA (E.A., U.N.); Division of Cardiology, Hypertrophic Cardiomyopathy Center, Tufts Medical Center, Boston, MA (M.M., B.J.M.); Cardiovascular Division, Brigham and Women's Hospital, Boston, MA (M.A.B., C.E.S.); Division of Cardiology, Emory University School of Medicine, Atlanta, GA (M.A.B.); Department of Medical Endocrinology, Rigshospitalet and University of Copenhagen, Denmark (C.V.M., U.F.-R.); Howard Hughes Medical Institute, Boston, MA (C.E.S.); and Department of Medicine, Akureyri Hospital, Iceland (G.T.G.).
    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). Read More

    Neuro-Otological and Peripheral Nerve Involvement in Fabry Disease.
    Audiol Res 2017 Jul 28;7(2):176. Epub 2017 Jul 28.
    Department of Neurology, British Hospital, Buenos Aires, Argentina.
    Fabry disease (FD) is an X-linked lysosomal storage disease, with multisystemic glycosphingolipids deposits. Neuro-otological involvement leading to hearing loss and vestibular dysfunctions has been described, but there is limited information about the frequency, site of lesion, or the relationship with peripheral neuropathy. The aim was to evaluate the presence of auditory and vestibular symptoms, and assess neurophysiological involvement of the VIII cranial nerve, correlating these findings with clinical and neurophysiological features of peripheral neuropathy. Read More

    Intraoperative Diagnosis of Anderson-Fabry Disease in Patients With Obstructive Hypertrophic Cardiomyopathy Undergoing Surgical Myectomy.
    JAMA Cardiol 2017 Aug 9. Epub 2017 Aug 9.
    Center for Hypertrophic Cardiomyopathy and Valvular Cardiopathies, Monza Hospital, Monza, Italy.
    Importance: Diagnostic screening for Anderson-Fabry cardiomyopathy (AFC) is performed in the presence of specific clinical red flags in patients with hypertrophic cardiomyopathy (HCM) older than 25 years. However, left ventricular outflow tract obstruction (LVOTO) has been traditionally considered an exclusion criteria for AFC.

    Objective: To examine a series of patients diagnosed with HCM and severe basal LVOTO undergoing myectomy in whom the diagnosis of AFC was suspected by the cardiac surgeon intraoperatively and confirmed by histological and genetic examinations. Read More

    The Role of Cardiovascular Magnetic Resonance Imaging in Heart Failure.
    Card Fail Rev 2016 Nov;2(2):115-122
    Cardiology Clinical Academic GroupSt George's Hospital, London, UK.
    Cardiovascular imaging is key for the assessment of patients with heart failure. Today, cardiovascular magnetic resonance imaging plays an established role in the assessment of patients with suspected and confirmed heart failure syndromes, in particular identifying aetiology. Its role in informing prognosis and guiding decisions around therapy are evolving. Read More

    Ultrastructural aspects of vacuolar degeneration of cardiomyocytes in human endomyocardial biopsies.
    Cardiovasc Pathol 2017 Sep - Oct;30:64-71. Epub 2017 Jul 4.
    Department of Cardiovascular Medicine, Hyogo Prefectural Amagasaki General Medical Center, Amagasaki, Japan.
    Vacuolar degeneration of cardiomyocytes is a histological finding commonly encountered during routine light microscopic examination of human endomyocardial biopsy specimens. The vacuoles appear as intracellular clear areas lacking myofibers. By itself, this finding has little diagnostic value, but may have important clinical implications when the vacuolar contents are of etiological significance (e. Read More

    Changes in Ionic Conductance Signature of Nociceptive Neurons Underlying Fabry Disease Phenotype.
    Front Neurol 2017 14;8:335. Epub 2017 Jul 14.
    Department of Physiology and Medical Physics, Division of Physiology, Medical University of Innsbruck, Innsbruck, Austria.
    The first symptom arising in many Fabry patients is neuropathic pain due to changes in small myelinated and unmyelinated fibers in the periphery, which is subsequently followed by a loss of sensory perception. Here we studied changes in the peripheral nervous system of Fabry patients and a Fabry mouse model induced by deletion of α-galactosidase A (Gla(-/0)). The skin innervation of Gla(-/0) mice resembles that of the human Fabry patients. Read More

    Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.
    PLoS One 2017 1;12(8):e0182379. Epub 2017 Aug 1.
    Department of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands.
    Despite enzyme replacement therapy, disease progression is observed in patients with Fabry disease. Identification of factors that predict disease progression is needed to refine guidelines on initiation and cessation of enzyme replacement therapy. To study the association of potential biochemical and clinical prognostic factors with the disease course (clinical events, progression of cardiac and renal disease) we retrospectively evaluated 293 treated patients from three international centers of excellence. Read More

    Fabry Disease in Southern Sardinia: epidemiological results from screening in an extensive area.
    G Ital Nefrol 2017 Aug 1;34(4):83-102. Epub 2017 Aug 1.
    Unità Operativa Territoriale di Nefrologia e Dialisi, ASSL di Cagliari.
    Introduction: Epidemiological data relating to the prevalence and incidence of Fabry disease (FD) and other Lysosomal Storage diseases (LSDs) are largely underestimated and not yet well known. Distribution of the disease varies according to geographical area and to ethnic origin. Heterozygous females are also at risk of contracting severe and multi-symptomatic forms of FD. Read More

    Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment.
    J Med Genet 2017 Jul 29. Epub 2017 Jul 29.
    Department of Pathology, University of Washington, Seattle, Washington, USA.
    Objective: Deficiency of α-galactosidase A (αGal-A) in Fabry disease leads to the accumulation mainly of globotriaosylceramide (GL3) in multiple renal cell types. Glomerular podocytes are relatively resistant to clearance of GL3 inclusions by enzyme replacement therapy (ERT). Migalastat, an orally bioavailable small molecule capable of chaperoning misfolded αGal-A to lysosomes, is approved in the European Union for the long-term treatment of patients with Fabry disease and amenable GLA (α-galactosidase A enzyme) mutations. Read More

    Dolichoectasia and Small Vessel Disease in Young Patients With Transient Ischemic Attack and Stroke.
    Stroke 2017 Sep 28;48(9):2361-2367. Epub 2017 Jul 28.
    From the Stroke Division, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Heidelberg, Victoria, Australia (V.T.); Department of Neurology, Austin Health, Heidelberg, Victoria, Australia (V.T.); Center for Stroke Research and Department of Biostatistics and Clinical Epidemiology, Charité - University Medical Centre Berlin, Germany (U.G.); Department of Neurology (F.F., R.S., C.E.) and Division of Neuroradiology, Department of Radiology (C.E.), Medical University of Graz, Austria; Department of Neurology, The Adelaide and Meath Hospital, Incorporating the National Children's Hospital, Dublin, Republic of Ireland (D.J.H.M.); Department of Clinical Neurosciences, Royal Free Campus, UCL Institute of Neurology, London, United Kingdom (D.J.H.M.); Academic Unit of Neurology, School of Medicine, Trinity College Dublin, Ireland (D.J.H.M.); Albrecht-Kossel-Institute for Neuroregeneration (AKos) Centre for Mental Health Disease University of Rostock, Germany (A.-K.G., A.R.); Department of Neurology, University Medicine Greifswald, Ernst-Moritz-Arndt-University Greifswald, Germany (C.K., B.v.S.); Institut für Klinische Epidemiologie und Angewandte Biometrie (IKEaB), Tübingen, Germany (P.M.); Department of Clinical Sciences Neurology, Lund University, Sweden (B.N.); Wilhelms University of Muenster, Germany (E.B.R.); Department of Neurology, Justus Liebig University Giessen, Germany (C.T.); Department of Neurology, Helsinki University Central Hospital, Finland (J.P., T.T.); Clinical Neurosciences, University of Helsinki, Finland (J.P., T.T.); Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Sweden (T.T.); and Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden (T.T.).
    Background And Purpose: We evaluated whether basilar dolichoectasia is associated with markers of cerebral small vessel disease in younger transient ischemic attack and ischemic stroke patients.

    Methods: We used data from the SIFAP1 study (Stroke in Young Fabry Patients), a large prospective, hospital-based, screening study for Fabry disease in young (<55 years) transient ischemic attack/stroke patients in whom detailed clinical data and brain MRI were obtained, and stroke subtyping with TOAST classification (Trial of ORG 10172 in Acute Stroke Treatment) was performed.

    Results: Dolichoectasia was found in 508 of 3850 (13. Read More

    LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.
    PLoS One 2017 27;12(7):e0181700. Epub 2017 Jul 27.
    Service de Biochimie et Biologie Moléculaire Grand Est, Unité Médicale Pathologies Métaboliques, Erythrocytaires et Dépistage Périnatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.
    Background: The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in plasma.

    Methodology: We developed a sensitive and specific method enabling the simultaneous quantification of lysosphingolipids by LC-MS/MS: lysoglobotriaosylceramide for Fabry disease, lysohexosylceramide (i. Read More

    Fabry Nephropathy.
    Arch Pathol Lab Med 2017 Aug;141(8):1127-1131
    From the Department of Pathology, University Hospital of Besançon, CHRU, Besançon, France.
    Fabry disease is a rare X-linked recessive lysosomal storage disease. Multiple mutations of the GLA gene lead to a deficient or absent activity of the lysosomal enzyme α-galactosidase A, resulting in progressive glycotriaosylceramide accumulation in many organs. Low α-galactosidase A activity and mutations in the GLA gene confirm the diagnosis. Read More

    Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study.
    PLoS One 2017 25;12(7):e0180437. Epub 2017 Jul 25.
    Transplantation Centre, Lausanne University Hospital, Lausanne, Switzerland.
    Introduction: Fabry disease (FD) is a lysosomal storage disorder leading to decreased α-galactosidase A enzyme activity and subsequent abnormal accumulation of glycosphingolipids in various organs. Although histological evidence of lung involvement has been demonstrated, the functional impact of these changes is less clear.

    Materials And Methods: Adult patients with FD who had yearly pulmonary function tests (PFT) at two centers from 1999 thru 2015 were eligible for this observational study. Read More

    Early segmental relaxation abnormalities in hypertrophic cardiomyopathy for differential diagnostic of patients with left ventricular hypertrophy.
    Clin Cardiol 2017 Jul 24. Epub 2017 Jul 24.
    Department of General and Interventional Cardiology, University Heart Center Hamburg, Germany.
    Background: Hypertrophic cardiomyopathy (HCM) is characterized by asymmetric left ventricular hypertrophy (LVH). However, clinical signs can be subtle and differentiation from other causes of LVH is challenging.

    Hypothesis: As diastolic dysfunction (DD) is an early sign in HCM, we aimed to find regional changes in relaxation pattern for differentiation from other entities of LVH. Read More

    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, Würzburg, Germany.
    Lucerastat is a glucosylceramide synthase inhibitor aimed at reducing production of glycosphingolipids (GSLs), including those accumulating in Fabry disease. The safety, tolerability, pharmacodynamics, and pharmacokinetics of oral lucerastat were evaluated in an exploratory study in patients with Fabry disease. In this single-center, open-label, randomized study, 10 patients received lucerastat 1,000 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 Dec 23;248:257-262. 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

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