Medical Definition of Gaucher disease, type 1

  • Medical Author:
    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.

Gaucher disease, type 1: The most common and best known form of Gaucher disease. It affects the spleen liver, and bone marrow and spares the brain. The symptoms include enlargement of the spleen (usually the first sign), anemia, low blood platelets, increased skin pigmentation, and a yellow fatty spot on the white of the eye (a pinguecula). Severe bone involvement can lead to pain and collapse of the bone of the hips, shoulders, and spine. This type of Gaucher disease is the most common genetic disease among Jews in North America.

Type 1 Gaucher disease is an inborn error of metabolism due to a defect in an enzyme called glucocerebrosidase, which is needed to break down the chemical glucocerebroside. The enzyme defect leads to the progressive accumulation of glucocerebroside in the spleen, liver, and lymph nodes.

The gene for Gaucher disease (GD) is on chromosome 1. The disease is a recessive trait, so if both parents carry the GD gene, they can transmit it to their child causing the disease. The risk for the parents having a child with the disease is 1 in 4 with each pregnancy.

Type 1 Gaucher disease is known alternatively as noncerebral juvenile Gaucher disease or glucocerebrosidase deficiency.

See the entries also to: Gaucher disease, Gaucher disease, types 2-5.

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Last Editorial Review: 1/11/2017

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