Fabry Disease

  • Medical Author:
    John P. Cunha, DO, FACOEP

    John P. Cunha, DO, is a U.S. board-certified Emergency Medicine Physician. Dr. Cunha's educational background includes a BS in Biology from Rutgers, the State University of New Jersey, and a DO from the Kansas City University of Medicine and Biosciences in Kansas City, MO. He completed residency training in Emergency Medicine at Newark Beth Israel Medical Center in Newark, New Jersey.

  • Medical Editor: William C. Shiel Jr., MD, FACP, FACR
    William C. Shiel Jr., MD, FACP, FACR

    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

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What is a Genetic Disease?

A genetic disease is caused by an abnormality in a person's genome. There are many different types of genetic inheritance including single, multifactoral, and mitochondrial. The following is a short list of genetic diseases:

  • Turner syndrome
  • Sickle cell anemia
  • Cystic fibrosis
  • Heart disease
  • High blood pressure
  • Cancer
  • Obesity

Fabry disease definition and facts

  • Fabry disease is a rare genetic disease with a deficiency of an enzyme called alpha-galactosidase A. Fabry disease affects many parts of the body including the skin, eyes, gastrointestinal system, kidney, heart, brain, and nervous system.
  • Symptoms of Fabry disease 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.
  • Fabry disease is estimated to affect 1 in 40,000 males.
  • Fabry 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 Fabry 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.

Medically Reviewed by a Doctor on 6/30/2016

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