Medical Definition of Gaucher disease

  • 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: A series of disorders that are due to deficient activity of the enzyme glucocerebrosidase, which leads to accumulation of glucocerebroside in tissues of the body. The five types of Gaucher disease encompass a continuum of clinical findings from a lethal form that occurs before or just after birth to a form so mild that it may not be diagnosed until old age. All types of Gaucher disease are inherited in an autosomal recessive manner.

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Reviewed on 12/11/2018

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