Final answer:
Fabry disease is due to a deficiency of the enzyme alpha-galactosidase A, which leads to the accumulation of globotriaosylceramide (GL-3) in various organs and tissues. Symptoms can include skin rashes, pain in the hands and feet, kidney problems, and heart complications. Treatment may involve enzyme replacement therapy and other supportive measures.
Step-by-step explanation:
Fabry Disease: Deficiency of the enzyme alpha-galactosidase
Fabry disease is a rare genetic disorder that results from a deficiency of the enzyme alpha-galactosidase A. This enzyme is responsible for breaking down a type of fatty substance called globotriaosylceramide (GL-3) in cells. In individuals with Fabry disease, GL-3 accumulates in various organs and tissues, causing a range of symptoms.
In Fabry disease, the deficiency of alpha-galactosidase A leads to the buildup of GL-3 in blood vessels and other cells. This can result in a variety of symptoms, including skin rashes, pain in the hands and feet, kidney problems, and heart complications.
Treatments for Fabry disease may include enzyme replacement therapy to supplement the missing enzyme and help reduce the accumulation of GL-3 in the body. Other management strategies may involve medications to control specific symptoms and regular monitoring of organ function.