Anderson-Fabry disease in young people
by Helen O’Donnell
Anderson-Fabry disease (more commonly known as Fabry disease) is a rare X-linked recessive metabolic disease that can affect a lot of systems within the body. It is estimated to affect one in 40,000 males.1,2 It was discovered in the 19th century by a German physician called Johann Fabry and an English physician called William Anderson. It is an inherited lysosomal storage disorder.
As this is a metabolic disorder, it can affect almost every cell in the body causing multiple systems to be affected. It is caused by a defect on the gene that codes for the production of the enzyme α galactosidase A. This results in the inability to break down glycosphingolipid- globotriaosylceramide (GL-3) which is a normal product of metabolism.3 This then accumulates in the endothelial and visceral tissues affecting the major organs such as the kidneys, the heart and the brain.