Fabry Disease: Enzyme Deficiency in the Human Body

Fabry disease is an inherit (genetic or DNA) metabolic fat storage disorder, certain fats (globotriaosylceramide or GL-3) accumulate in the blood vessels over many years, leading to the involvement (or damage) of various tissues and organs of the body, including the heart and kidney. In 1898, two European dermatologists, Johann Fabry of Dortmund, Germany and William Anderson of London, reported independently the first description of Fabry disease. In the mid 1960s, the connection of the disease was linked to an enzyme defect. The deficiency of human body to produce the enzyme (alpha-galactosidase A or ceramidetrihexosidase), involved in the breakdown of fats, and found in a defective 'X' chromosome. Fabry disease affects approximately 5,000 people worldwide, and the average life - span of patients is fifty years.

Genetically Fabry disease affects men and women differently. If a man has Fabry Disease: Each daughter will be a carrier, since all daughters inherit their father's 'X' chromosome. Each son will be unaffected, since sons do not inherit the 'X' chromosome from their fathers. If a woman is carrier of Fabry Disease: Each daughter will have a fifty percent chance of being a carrier. Each son will have a fifty percent chance of inheriting the gene for Fabry Disease. Statistically, the disease in males is one in 40,000. A blood test will determine if the disease is present, and recommended taking the test, if there is a family history of Fabry Disease, preventing any permanent damage to the organs. Also, a skin biopsy examines for an increase fat in the skin cells, which may suggest Fabry Disease. During prenatal period (Nine weeks into the pregnancy) enzyme activity of alpha-galactosidase 'A' is measured to determine if a male fetus will have the affected gene. Eventually, the metabolic disorder causes pain, disability, and typically a shortened life - span.