• Fabry disease is a rare genetic disease with a deficiency of an enzyme called alpha-galactosidase A. The disease affects many parts of the body including the skin, eyes, gastrointestinal system, kidney, heart, brain, and nervous system.
• Symptoms of include:
• Fabry disease is caused by a defect on the X chromosome. X-linked genetic mutations tend to occur mostly in males, and rarely in females.
• It’s estimated that it affect1 1 in 40,000 males in the US.
• The disease is diagnosed with a test that measures leukocyte alpha-Gal A enzyme activity.
• Treatment for Fabry disease includes enzyme replacement therapy along with medications to treat and prevent other symptoms of the disease. Kidney transplants may be needed in severe cases when renal failure occurs.
• The life expectancy of males with Fabry disease is about 58 years, and the life expectancy of females with the disease is just over 75 years.

What is Fabry disease?

Fabry disease is a rare genetic disease a deficiency of the enzyme alpha-galactosidase A (a-Gal A) that causes a buildup of a type of fat called globotriaosylceramide (Gb3, or GL-3) in the body. Fabry disease is classified as a type of lysosomal storage disorder. Lysosomes are isolated areas of cells that contain enzymes. In a lysosomal storage disorder these enzymes do not properly metabolize certain fatty molecules. As a result, the undigested fat molecules accumulate and impair a cell’s ability to function. In Fabry disease, the alpha-galactosidase A enzymes are deficient and globotriaosylceramide accumulates, which can affect the function of the skin, eyes, gastrointestinal system, kidney, heart, brain, and nervous system.

Fabry disease is the result of a mutation of the gene responsible for making alpha-galactosidase enzyme, which is located on the X chromosome. Fabry affects mostly males though rarely females may inherit the disease.

Fabry disease is a progressive disorder and symptoms that affect the kidneys, heart, or brain most often occur when patients are age 30 to 45 years.

What causes the disease; is it genetic?

Fabry disease is a genetic disorder. A genetic disorder is caused by a mutation, or change, in a part of a person’s DNA. In Fabry disease the defective gene is on the X-chromosome, which is one of two sex chromosomes. Sex chromosomes determine a person’s gender at birth. Everyone inherits one sex chromosome from each parent. Mothers pass on only X chromosomes while fathers can pass on either an X or a Y chromosome. The chromosome passed on by the father then determines the sex of the offspring: females have two X chromosomes (XX), and males have one X chromosome and one Y chromosome (XY). Fabry disease affects mostly males, who receive one X chromosome with the abnormal gene. Females with Fabry disease also receive one X chromosome with the defective gene, however, since females have two X chromosomes, the normal X chromosome can offer some protection against developing the disorder.

Fabry disease is caused by a genetic mutation resulting in a deficiency of an enzyme called alpha-galactosidase A (a-Gal A). The genetic defect causes the body to not make enough of this enzyme leading to a buildup of a type of fat called globotriaosylceramide (Gb3, or GL-3) in the body cause the symptoms of Fabry disease.

How do you inherit Fabry disease?

Fabry disease is the result of what is called an X-linked inheritance, that is, the disease is caused by a defect on the X chromosome. X-linked genetic mutations tend to occur mostly in males and rarely in females.

If a mother is carrying the defective gene for Fabry disease, both male and female children have a 50% chance of inheriting it from their mother. If the father is carrying the Fabry gene, the female children will inherit the defective gene because the father passes along an X chromosome to them, but the male children, who get a Y chromosome, will not.

Females who inherit a defective X chromosome are called carriers and they may pass the genetic mutation on to their male children.