Gaucher's disease

Medical condition Gaucher's disease ( ) is a genetic disease in which a fatty substance (lipid) accumulates in cells and certain organs. Gaucher's disease is the most common of the lysosomal storage diseases . It is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as acid β-glucosidase). The enzyme acts on a fatty substance glucocerebroside (also known as glucosylceramide). When the enzyme is defective, the substance accumulates, particularly in cells of the mononuclear cell lineage . Fatty material can collect in the spleen , liver, kidneys , lungs , brain and bone marrow. Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may be painful, severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia , low blood platelets and yellow fatty deposits on the white of the eye ( sclera ). Persons affected most seriously may also be more susceptible to infection. Some forms of Gaucher's disease may be treated with enzyme replacement therapy. The disease is caused by a recessive mutation in a gene located on chromosome 1 and affects both males and females. About 1 in 100 people in the United States are carriers of the most common type of Gaucher disease, while the carrier rate among Ashkenazi Jews is 8.9% while the birth incidence is 1 in 450. The disease is named after the French doctor Philippe Gaucher , who originally described it in 1882. Andrews' Diseases of the Skin: clinical Dermatology .

Medical condition Gaucher's disease or Gaucher disease ( / ɡ oʊ ˈ ʃ eɪ / ) (GD) is a genetic disease in which fatty substances ( sphingolipids ) accumulate in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelets, and enlargement of the liver and spleen. It is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase). This enzyme acts on the glycolipid glucocerebroside (or glucosylceramide). When the enzyme is defective, glucosylceramide accumulates, particularly in white blood cells, most often macrophages ( mononuclear leukocytes ). Glucosylceramide can collect in the spleen , liver , kidneys , lungs , brain , and bone marrow . Manifestations may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may be painful, severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia , low blood platelets , and yellow fatty deposits on the white of the eye ( sclera ). Persons affected most seriously may also be more susceptible to infection. Some forms of Gaucher's disease may be treated with enzyme replacement therapy. The disease is caused by a recessive mutation in a gene located on chromosome 1 and affects both males and females. About one in 100 people in the United States are carriers of the most common type of Gaucher disease. The carrier rate among Ashkenazi Jews is 8.9% while the birth incidence is one in 450. Gaucher's disease is the most common of the lysosomal storage diseases . It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids . The disease is named after the French physician Philippe Gaucher , who originally described it in 1882. PMID 1897529 . : CS1 maint: multiple names: authors list ( link ) James, William D.; Berger, Timothy G.; et al. Andrews' Diseases of the Skin: clinical Dermatology .

Medical condition Gaucher's disease or Gaucher disease ( / ɡ oʊ ˈ ʃ eɪ / ) ( GD ) is a genetic disorder in which glucocerebroside (a sphingolipid , also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue , anemia , low blood platelet count and enlargement of the liver and spleen , and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages ( mononuclear leukocytes ). Glucocerebroside can collect in the spleen , liver , kidneys , lungs , brain , and bone marrow . Manifestations may include enlarged spleen and liver, liver malfunction, skeletal disorders or bone lesions that may be painful, severe neurological complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia , low blood platelet count, and yellow fatty deposits on the white of the eye ( sclera ). Persons seriously affected may also be more susceptible to infection. Some forms of Gaucher's disease may be treated with enzyme replacement therapy. The disease is caused by a recessive mutation in the GBA gene located on chromosome 1 and affects both males and females. About one in 100 people in the United States are carriers of the most common type of Gaucher disease. The carrier rate among Ashkenazi Jews is 8.9% while the birth incidence is one in 450. Gaucher's disease is the most common of the lysosomal storage diseases . It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids . The disease is named after the French physician Philippe Gaucher , who originally described it in 1882. Andrews' Diseases of the Skin: clinical Dermatology .

Medical condition Gaucher's disease or Gaucher disease ( / ɡ oʊ ˈ ʃ eɪ / ) ( GD ) is a genetic disorder in which glucocerebroside (a sphingolipid , also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue , anemia , low blood platelet count and enlargement of the liver and spleen , and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages ( mononuclear leukocytes , which is often a target for intracellular parasites ). Glucocerebroside can collect in the spleen , liver , kidneys , lungs , brain , and bone marrow . Manifestations may include enlarged spleen and liver, liver malfunction, skeletal disorders or bone lesions that may be painful, severe neurological complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia , low blood platelet count, and yellow fatty deposits on the white of the eye ( sclera ). Persons seriously affected may also be more susceptible to infection. Some forms of Gaucher's disease may be treated with enzyme replacement therapy. The disease is caused by a recessive mutation in the GBA gene located on chromosome 1 and affects both males and females. About one in 100 people in the United States are carriers of the most common type of Gaucher disease. The carrier rate among Ashkenazi Jews is 8.9% while the birth incidence is 1 in 450. Gaucher's disease is the most common of the lysosomal storage diseases . It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids . The disease is named after the French physician Philippe Gaucher , who originally described it in 1882. Andrews' Diseases of the Skin: clinical Dermatology .