Articles tagged: fabry disease
<< previous page 1 next page>> written by Juliet Cohen Fabry disease is a X-dependent disease lysosomal recessive of storage. Fabry disease is caused by the lack of or the necessary defective enzyme to metabolize of the lipids, large-like the substances which include oils, waxes, and acids fatty. written by Corwin Brown Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids. written by Corwin Brown Fabry disease is one of several genetically inherited diseases called lysosomal storage disorders. It causes a wide range of signs and symptoms that can range from mild to severe and life threatening. written by peter hutch Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids. The enzyme is known as ceramide trihexosidase, also called alpha-galactosidase-A. A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the eyes, kidneys, autonomic nervous system, and cardiovascular system. Since the gene that is altered is carried on a mother’s X chromosome, her sons have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier. Some women who carry the genetic mutation may have symptoms of the disease. written by peter hutch Fabry disease is one of several genetically inherited diseases called lysosomal storage disorders. It causes a wide range of signs and symptoms that can range from mild to severe and life threatening. This site connects the Fabry community to information about the causes, diagnosis and management of Fabry disease. The site also provides support to patients, families, and healthcare providers. << previous page 1 next page>> |