Disease Information for Gaucher's disease: Definition

  • An autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase (see GLUCOSYLCERAMIDASE) featuring the pathological storage of glycosylceramide in mononuclear PHAGOCYTES (Gaucher Cells); The most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities; The neuronopathic forms are divided into infantile and juvenile forms; The infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly; The juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ATAXIA, myoclonic SEIZURES, and spasticity; The neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons;--------[Menkes, Textbook of Child Neurology, 5th ed,)------------------

    Gaucher Disease; Sphingolipidosis 1; Norrbottnian Gaucher Disease; Type I Gaucher Disease; Type II Gaucher Disease;

    Type III Gaucher Disease; 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 symptoms associated with 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; 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 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-----------[NORD 2005]-----------------