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  • Gaucher Disease

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    Gaucher disease is a rare, inherited metabolic disorder caused by a deficiency of the enzyme glucocerebrosidase, which results in harmful accumulation of certain lipids like glucocerebroside in the body, especially in the bone marrow, spleen and liver. Common symptoms include enlarged liver and spleen, anemia, low platelet counts, and skeletal abnormalities. There are three forms distinguished by whether and how severe neurological complications are. All three forms are inherited in an autosomal recessive pattern. Gaucher disease is a lysosomal storage disorder where lipids accumulate because the glucocerebrosidase enzyme is lacking.

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    Gaucher disease is a rare, inherited metabolic disorder caused by a deficiency of the enzyme glucocerebrosidase, which results in harmful accumulation of certain lipids like glucocerebroside in the body, especially in the bone marrow, spleen and liver. Common symptoms include enlarged liver and spleen, anemia, low platelet counts, and skeletal abnormalities. There are three forms distinguished by whether and how severe neurological complications are. All three forms are inherited in an autosomal recessive pattern. Gaucher disease is a lysosomal storage disorder where lipids accumulate because the glucocerebrosidase enzyme is lacking.

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    © All Rights Reserved
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    44 views1 page

    Gaucher Disease

    Uploaded by

    nealziedan
    Gaucher disease is a rare, inherited metabolic disorder caused by a deficiency of the enzyme glucocerebrosidase, which results in harmful accumulation of certain lipids like glucocerebroside in the body, especially in the bone marrow, spleen and liver. Common symptoms include enlarged liver and spleen, anemia, low platelet counts, and skeletal abnormalities. There are three forms distinguished by whether and how severe neurological complications are. All three forms are inherited in an autosomal recessive pattern. Gaucher disease is a lysosomal storage disorder where lipids accumulate because the glucocerebrosidase enzyme is lacking.

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    © All Rights Reserved
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    10/20/13 Gaucher Disease

    children.webmd.com/gaucher-disease-11178 1/5
    Gaucher Disease
    Important
    It is possible that the main title of the report Gaucher Disease is not the name you expected. Please check the synonyms listing
    to find the alternate name(s) and disorder subdivision(s) covered by this report.
    Synonyms
    cerebroside lipidosis syndrome
    Gaucher splenomegaly
    glucocerebrosidase deficiency
    glucocerebrosidosis
    glucosylceramidase deficiency
    glucosyl cerebroside lipidosis
    kerasin lipoidosis
    kerasin thesaurismosis
    lipid histiocytosis (kerasin type)
    sphingolipidosis 1
    Disorder Subdivisions
    Norrbottnian Gaucher disease
    type I Gaucher disease
    type II Gaucher disease
    type III Gaucher disease
    General Discussion
    Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the
    accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the body
    especially within the bone marrow, spleen and liver. The symptoms and physical findings associated with Gaucher disease vary
    greatly from case to case. Some individuals will develop few or no symptoms (asymptomatic); others may have serious
    complications. Common manifestations of Gaucher disease include an abnormally enlarged liver and/or spleen
    (hepatosplenomegaly), low levels of circulating red blood cells (anemia), low levels of platelets(thrombocytopenia), and skeletal
    abnormalities. Platelets are blood cells that promote clotting and patients with thrombocytopenia may develop bleeding problems.
    Three separate forms of Gaucher disease have been identified and are distinguished by the absence of, or the presence and
    extent of, neurological complications. All three forms of Gaucher disease are inherited as autosomal recessive traits.
    Gaucher disease is categorized as a lysosomal storage disorder. Lysosomes are the major digestive units in cells. Enzymes
    within lysosomes break down or "digest" nutrients, including certain complex carbohydrates and fats. In Gaucher disease certain
    sugar (glucose) containing fats, known as glycolipids, abnormally accumulate in the body because of the lack of the enzyme,
    glucocerebrosidase. This accumulation or "storage" of lipids leads to the various symptoms or physical findings associated with
    a lysosomal storage disease. Gaucher disease is the most common type of lysosomal storage disorder.
    Resources
    Symptoms | Doctors | Health Insurance
    Article Link: http://children.webmd.com/gaucher-disease-11178

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