Fabry disease is an inborn error of metabolism due to deficient activity of the lysosomal enzyme alpha-galactosidase A. The enzyme defect leads to the systemic accumulation of neutral glycosphingolipids in tissues. Otological manifestations consist of hearing loss and mild vestibular disorders. In this report we describe a family of five members affected by Fabry disease with four subjects showing inner ear involvement.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s10545-007-0523-0 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Phenotypic variability and the gender paradox in the R363C variant of Fabry disease.
JIMD Rep
January 2025
Division of Genetics and Metabolism, Department of Pediatrics University of Minnesota Minneapolis Minnesota USA.
Fabry disease is an X-linked lysosomal disease caused by variants in the gene. Although Fabry disease is X-linked, gene variants in females can exhibit a wide range of symptoms, challenging the traditional view of Fabry as an X-linked recessive disease. A family is presented here with a 36-year-old female who is symptomatic with chronic kidney disease and her oligosymptomatic 70-year-old father, both of whom have a heterozygous and hemizygous GLA pathogenic variant, respectively, c.
View Article and Find Full Text PDFUnifying biology of neurodegeneration in lysosomal storage diseases.
J Inherit Metab Dis
January 2025
Department of Life Sciences, Manchester Metropolitan University, Manchester, UK.
There are currently at least 70 characterised lysosomal storage diseases (LSD) resultant from inherited single-gene defects. Of these, at least 30 present with central nervous system (CNS) neurodegeneration and overlapping aetiology. Substrate accumulation and dysfunctional neuronal lysosomes are common denominator, but how variants in 30 different genes converge on this central cellular phenotype is unclear.
View Article and Find Full Text PDFCardiopulmonary exercise testing in Fabry disease: is it an early marker of cardiomyopathy?
Heart
January 2025
Internal Medicine, Virginia Commonwealth University, Richmond, Virginia, USA.
Characteristics of atrial ventricular coupling and left atrial function impairment in early Fabry disease patients using two-dimensional speckle tracking echocardiography.
Int J Cardiol
January 2025
Department of Cardiology, The First Affiliated Hospital of Soochow University, Suzhou, China. Electronic address:
Aims: The study was designed to investigate the characteristics of atrial ventricular coupling and left atrial (LA) function impairment in patients with Fabry disease (FD), especially those in the early stages of the condition.
Methods: A total of 65 patients with Fabry disease who completed echocardiographic examinations from January 2018 to May 2024 were ultimately included. Among them, 25 patients with FD did not have left ventricular (LV) hypertrophy (LVH).
Diagnostic and prognostic perspectives of fabry disease via fiber evanescent wave spectroscopy advanced by machine learning.
Biosens Bioelectron
January 2025
Institute of Physics, College of Natural Sciences, University of Rzeszow, Rzeszow, Poland.
Fabry disease (FD) is a rare disorder resulting from a genetic mutation characterized by the accumulation of sphingolipids in various cells throughout the human body, leading to progressive and irreversible organ damage, particularly in males. Genetically-determined deficiency or reduced activity of the enzyme (alpha - Galactosidase; α-Gal) leads to the accumulation of sphingolipids in the lysosomes of various cell types, including the heart, kidneys, skin, eyes, central nervous system, and digestive system, triggering damage, leading to the failure of vital organs, and resulting in progressive disability and premature death. FD diagnostics currently depend on costly and time-intensive genetic tests and enzymatic analysis, often leading to delayed or inaccurate diagnoses, which contribute to rapid disease progression.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!