Fabry disease is a rare, inherited disorder caused by a deficiency in the enzyme alpha-galactosidase A, leading to a buildup of a fatty substance called globotriaosylceramide in the body’s tissues, particularly affecting the kidneys, heart, and blood vessels. Treatments can help manage symptoms and slow the progression of the disease.
- 1 out of 1,250 male infants in Taiwan.
- Symptoms are typically first experienced in early childhood and sometimes lead to misdiagnosis.
- May lead to irreversible damage and dysfunction in various organs if proper treatments are not delivered.
- A genetic test is usually needed to confirm the diagnosis.