Fabry disease
Fabry disease is a rare genetic disorder caused by a deficiency of the enzyme alpha-galactosidase A. This enzyme is essential for breaking down certain fatty substances in the body. When it is lacking, these substances accumulate in various tissues, leading to a range of symptoms, including pain, skin rashes, and kidney problems.
The condition is inherited in an X-linked recessive pattern, meaning it primarily affects males, although females can also be carriers and experience milder symptoms. Early diagnosis and treatment are crucial to manage the disease and prevent complications, such as heart and kidney damage.