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Infiltrative Cardiomyopathies
Published in Andreas P. Kalogeropoulos, Hal A. Skopicki, Javed Butler, Heart Failure, 2023
Arthur Qi, Quynh Nguyen, Haran Yogasundaram, Gavin Y. Oudit
Fabry disease is a lysosomal storage disease with systemic sequelae that arise from diminished or absent α-Gal A enzyme activity, leading to serious cardiac, renal, and neurological disease. Cardiovascular disease is the number one cause of mortality in FD patients and manifests as LVH, diastolic dysfunction, microvascular dysfunction, and conduction disease. Diagnosis is based on α-Gal A activity and genetic testing in combination with clinical and biochemical disease markers. Traditional and novel biomarkers and cardiac imaging play crucial roles in following disease progression and response to therapy. The mainstays of treatment include aggressive conventional risk factor modification and ERT, with chaperone therapy, SRT, and gene therapy emerging as promising interventions.
Fabry disease
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Enzyme replacement therapy has become the standard of care for patients with Fabry disease (63) It is ideally begun prior to the onset of symptoms, at least after 18 years of age in males. Products include agalsidase alfa (Replagal, Shire) and agalsidase (Sanofi Genzyme). The former is given (0.2 mg/kg) every other week, by intravenous injection. The latter is given (1 mg/kg) every other week intravenous.
Gene Transfer into Human Hematopoietic Stem Cells
Published in Richard K. Burt, Alberto M. Marmont, Stem Cell Therapy for Autoimmune Disease, 2019
Serguei Kisselev, Tatiana Seregina, Richard K. Burt, Charles J. Link
Fabry disease is a human lysosomal storage disorder due to an inborn defect of the alpha-galactosidase A gene. Preliminary experiments demonstrated that cord blood or bone marrow CD34+ cells as well as long-term culture derived progenitor cells could be successfully transduced by retroviral vectors carrying the alpha-gal A transgene.117 The efficiency of cord blood CD34+ transduction in this pre-clinical study ranged from 34% to 82%. Furthermore, in vitro experiments established that alpha-gal A transduced cells could secrete alpha-galactosidase A and complement the genetic defect of non-transduced cells derived from patients with Fabry disease.
Low α-N-acetylgalactosaminidase plasma concentration correlates with the presence and severity of the bipolar affective disorder
Published in The World Journal of Biological Psychiatry, 2023
The results of our study may contribute significantly to the treatment of BAD. Enzyme replacement therapy (ERT) and haematopoietic cell transplant (HCT) treatments have been applied in some glycoproteinoses. Haematopoietic cells, in particular, pass through the blood-brain barrier and distribute functional enzymes to the defect site, resulting in reduced CNS pathology (Capotondo et al. 2012). HCT treatment, particularly when applied at early ages, reduces neurocognitive loss and maintains life quality, prolonging survival (Naumchik et al. 2020). A study on Fabry disease revealed that enzyme replacement therapy was beneficial especially when applied with modified α-NAGAL (Tajima et al. 2009). In light of these results, we believe that further studies on HCT and ERT will pave the way for new treatments in terms of α-NAGAL deficiency in BAD. Future research that includes new studies of larger patient groups and different clinical data and techniques is necessary to support our results. Our study is the first of its kind in shedding light on the aetiological approach and innovations necessary in the treatment of BAD. Treatment methods utilising HCT and ERT are promising in the diagnosis of the α-NAGAL deficiency by dint of practical screening tools for testing purposes that can be applied at early stages of life, even during gestation.
Could low α-N-acetylgalactosaminidase plasma concentration cause schizophrenia?
Published in The World Journal of Biological Psychiatry, 2023
We think that the results we found may also contribute to the treatment. In some glycoproteinoses, enzyme replacement therapy (ERT) and haematopoietic cell transplant (HCT) treatments have been performed. In particular, haematopoietic cells cross the blood-brain barrier and distribute the functional enzyme to areas of deficiency, allowing a positive effect on CNS pathology (Capotondo et al. 2012). After HCT is performed at an early age, neurocognitive loss can be reduced, quality of life can be maintained, and survival time can be prolonged (Naumchik et al. 2020). A previous study on Fabry disease, enzyme replacement therapy with modified α-NAGAL proved beneficial (Tajima et al. 2009). We believe that new studies on ERT and HCT for α-NAGAL deficiency in schizophrenia will provide new hope in treatment.
Visual outcome, ocular findings, and visual quality of life in patients with Fabry disease
Published in Ophthalmic Genetics, 2022
Mattias Nilsson, Hani Tavakoli Kolagari, David Epstein, Branka Samolov, Monica Olsson, Karin Naess, Mikael Oscarson, Kristina Teaer Fahnehjelm
Fabry disease (FD) is a rare lysosomal storage disorder with an estimated prevalence of 1:40,000 to 1:117,000 world-wide (1). It is caused by pathogenic variants in the X-chromosomal (×q22.1) GLA gene encoding α-galactosidase A, necessary for metabolism of globotriaosylceramide (Gb3). Deficiency results in the progressive accumulation of Gb3 and related compounds in cells throughout the body. Many patients develop pain crisis (acroparasthesias), hypohidrosis, and skin lesions (angiokeratomas) during childhood, and later in life, gradual accumulation can result in end-stage renal disease, hypertrophic cardiomyopathy, and cerebrovascular disease (2). However, there is a wide spectrum of disease manifestations, ranging from the classical severe phenotype to atypical late-onset forms.