Gaucher disease

Gaucher disease
A series of 5 diseases due to deficient activity of the enzyme glucocerebrosidase, leading to accumulation of glucocerebroside in tissues of the body. The 5 types of Gaucher disease encompass a continuum of clinical findings from a lethal form before or just after birth to a form so mild that it may not be diagnosed until old age. All 5 types of Gaucher disease are inherited in an autosomal recessive manner. See the entries also to: {{}}Gaucher disease, type 1 Gaucher disease, types 2-5

* * *

a lysosomal storage disease characterized by glucocerebroside (glucosylceramide) accumulation in Gaucher cells, storage cells in the liver, spleen, lymph nodes, alveolar capillaries, and bone marrow; it is caused by mutations in either glucocerebrosidase (glucosylceramidase) or an activator protein associated with that enzyme, saposin C. There are three clinical types: type 1, called also chronic nonneuronopathic or “adult” type, may appear at any age and is associated with hypersplenism, thrombocytopenia, anemia, jaundice, and bone lesions; type 2, called also acute neuronopathic or “infantile” type, is associated with onset in infancy, hepatosplenomegaly, severe impairment of the central nervous system, and death usually within the first year; and type 3, called also subacute neuronopathic or “juvenile” type, is the most varied, having the same clinical features as types 1 and 2 but a longer course. Called also glucosylceramide lipidosis.

Medical dictionary. 2011.

Игры ⚽ Поможем написать курсовую

Look at other dictionaries:

  • Gaucher disease — ▪ disease       rare inherited metabolic disorder characterized by anemia, mental and neurologic impairment, yellowish pigmentation of the skin, enlargement of the spleen, and bone deterioration resulting in pathological fractures. Gaucher… …   Universalium

  • Gaucher disease — Gaucher disease. См. болезнь Гоше. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • 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… …   Medical dictionary

  • Gaucher disease, types 2-5 — A series of disease due to glucocerebrosidase deficiency and accumulation of glucocerebroside in cells. By comparison with type 1 Gaucher disease, these are far less frequent forms of Gaucher disease. Types 2 and 3 Gaucher disease are… …   Medical dictionary

  • Gaucher's disease — Classification and external resources Acid beta glucosidase ICD 10 E75 …   Wikipedia

  • Gaucher-Krankheit — Klassifikation nach ICD 10 E75.2 Sonstige Sphingolipidosen Gaucher Krankheit …   Deutsch Wikipedia

  • Gaucher-Syndrom — Klassifikation nach ICD 10 E75.2 Sonstige Sphingolipidosen Gaucher Krankheit …   Deutsch Wikipedia

  • Disease, Tay-Sachs (TSD) — Deficiency of hexosaminidase A causes a disorder known as Tay Sachs disease (TSD) which is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive neurodegenerative disorder, which in the classic… …   Medical dictionary

  • Gaucher cell — a large and distinctive cell characteristic of Gaucher disease, with one or more eccentrically placed nuclei and with fine wavy kerasin fibrils running parallel to the long axis of the cell, imparting a wrinkled, tissue paper appearance to the… …   Medical dictionary

  • Gaucher's disease — Gau·cher s disease .gō shāz n a rare hereditary disorder of lipid metabolism that is caused by an enzyme deficiency of glucocerebrosidase, that is characterized by enormous enlargement of the spleen, pigmentation of the skin, and bone lesions,… …   Medical dictionary

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”