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Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain, and skin. [1] Fabry disease is one of a group of conditions known as lysosomal storage diseases .
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
This disease may have late onset and only affect the heart or kidneys. [8] Fabry disease is an X-linked disease, affecting 1 in 40,000 males. However, unlike other X-linked diseases, this condition also creates significant medical problems for females carrying only 1 copy of the defective GLA gene.
4D Molecular Therapeutics Inc (NASDAQ: FDMT) has posted updated interim data from the Phase 1/2 trial of 4D-310 in Fabry disease at the 18th Annual WORLDSymposium. Following 4D-310 infusion, mean ...
Pegunigalsidase alfa, sold under the brand name Elfabrio, is an enzyme replacement therapy for the treatment of Fabry disease. [2] [4] It is a recombinant human α-galactosidase-A. [4] It is a hydrolytic lysosomal neutral glycosphingolipid-specific enzyme. [2] The most common side effects are infusion-related reactions, hypersensitivity and ...
Lysosomal storage diseases (LSDs; / ˌ l aɪ s ə ˈ s oʊ m əl /) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. [1] [2] Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling.
Genzyme Convenes 13 th European Fabry Disease Roundtable CAMBRIDGE, Mass.--(BUSINESS WIRE)-- Genzyme, ... diabetes solutions, human vaccines, innovative drugs, consumer healthcare, emerging ...
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
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