Fabry disease (FD), also known as Anderson-Fabry disease, is an X-linked X-linked Genetic diseases that are linked to gene mutations on the X chromosome in humans or the X chromosome in other species. Included here are animal models of human X-linked diseases. Common Variable Immunodeficiency (CVID) recessive lysosomal storage disorder and the 2nd most common of the lysosomal storage disorders (after Gaucher disease Gaucher disease Gaucher Disease (GD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of glucocerebrosidase enzyme activity, resulting in accumulation of glucocerebroside in cells and certain organs. The disease is categorized into 3 types with variable clinical presentation. Gaucher Disease). Fabry disease is caused by a deficiency in the alpha-galactosidase enzyme (alpha-Gal A), resulting in the accumulation of the glycosphingolipid globotriaosylceramide (Gb3) in lysosomes Lysosomes A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured or undergoes membrane fusion. The Cell: Organelles. This accumulation leads to organ dysfunctions and clinical manifestations. Fabry disease is classified into classic (early-onset) and atypical (late-onset) FD. The clinical presentation and severity can vary but may include acroparesthesias, angiokeratomas, stroke, cardiovascular disease, and renal dysfunction. Diagnosis is made by measurement of alpha-Gal A enzyme activity or identification Identification Defense Mechanisms of an alpha-galactosidase A (GLA) gene mutation Gene Mutation Myotonic Dystrophies. There is no cure for FD. Management is supportive, including pain Pain An unpleasant sensation induced by noxious stimuli which are detected by nerve endings of nociceptive neurons. Pain: Types and Pathways control and slowing the progression of disease with enzyme replacement Enzyme replacement Therapeutic replacement or supplementation of defective or missing enzymes to alleviate the effects of enzyme deficiency (e.g., glucosylceramidase replacement for gaucher disease). Severe Combined Immunodeficiency (SCID) or chaperone therapies.
Last updated: Sep 12, 2022
The clinical presentation and severity vary, and men have more severe symptoms than women do.
Clinical suspicion in children or adolescents will lead to testing and diagnosis. However, a late diagnosis is not uncommon given the varied clinical presentation.
Sign up now and get free access to Lecturio with concept pages, medical videos, and questions for your medical education.
Lecturio Premium gives you full access to all content & features
Verify your email now to get a free trial.
Lecturio Premium gives you full access to all contents and features—including Lecturio’s Qbank with up-to-date board-style questions.