Gaucher Disease

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

  • 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.

Types of Genetic Disorders

There are a number of types of genetic inheritance and associated disorders. For example, single gene or monogenetic inheritance disorders include:

  • Iron overload (hemochromatosis)
  • Sickle cell anemia
  • Marfan syndrome
  • Huntington's disease
  • Cystic fibrosis

Another type of genetic inheritance is multifactorial inheritance disorders, for example:

  • Diabetes
  • Cancer
  • Alzheimer's disease
  • Cancer

Gaucher disease facts

  • Gaucher disease is an inherited (genetic) condition that is due to a deficiency in the enzyme glucocerebrosidase.
  • Gaucher disease leads to the accumulation of fatty substances in certain organs.
  • Signs and symptoms of Gaucher disease include
  • Signs and symptoms vary among people with Gaucher disease.
  • There are several types of Gaucher disease including type 1, 2, 3 Gaucher disease; perinatal lethal Gaucher disease, and cardiovascular Gaucher disease.
  • The most common type of Gaucher disease is type 1, and this type typically does not affect the nervous system.
  • Type 2 Gaucher disease and perinatal lethal Gaucher disease are rare and severe forms of the disease.
  • Gaucher disease is inherited in an autosomal recessive manner.
  • Gaucher disease is most common in people of Ashkenazi Jewish descent, affecting about 1 out of every 855 people. In the non-Jewish population, Gaucher disease affects 1 out of every 40,000 people.
  • Enzyme replacement therapy (ERT) is the main treatment for Gaucher disease.
  • Those with family members affected with Gaucher disease may want to consider genetic counseling and screening for the genetic mutation.
Medically Reviewed by a Doctor on 7/5/2016

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