An enzyme disease where fatty substances accumulate in the lymph glands, spleen and liver, causing anaemia, a swollen spleen and darkening of the skin. The disease can be fatal in children. [Described 1882. After Philippe Charles Ernest Gaucher (1854-1918), French physician and dermatologist.]
A genetic disease due to a mutation in the gene for the synthesis of the enzyme glucocerebrosidase. This enzyme catalyzes the cleavage of the sphingolipid glucocerebroside. Characterized by accumulation of cerebrosides in the brain and other tissues.
Gaucher’s disease, or glucosyl cerebroside lipidosis, is the most common of the lipid storage diseases. It is a hereditary autosomal recessive disorder named after French physician Philippe Gaucher who first described it in 1882. The disease occurs due to a lack of the enzyme glucocerebrosidase. This deficiency results in the storage of abnormal amounts of glucocerebroside (a lipid) in specialized Gaucher cells, which are primarily located in the liver, spleen, bone marrow, and to a lesser extent in the lungs and brain. Prenatal diagnosis for Gaucher’s disease can be determined through amniocentesis or use of chorionic villus sampling (CVS). Diagnosis is made by demonstrating the lack of glucocerebrosidase activity in cell cultures obtained from biopsies of the spleen, liver, or bone marrow.
Rare, familial disorder of fat metabolism that leads to spleen and liver enlargement and abnormal bone growth. Mortality is high in early childhood; those who survive through adolescence, however, may live for many years.
An inborn chemical defect causing accumulation of fatty compounds (cerebrosides) in the liver, spleen, lymph nodes, and nervous system. The disease is fatal in infancy; a less severe form may become apparent only in adult life.
A rare disease characterized by abnormal storage of lipids, particularly in the spleen, central nervous system, bone marrow, and liver. This results in enlargement of the spleen and the liver, and anaemia. It runs a chronic course. Diagnosis is usually by skin fibroblast glucocerebrosidase assay. Infantile Gaucher’s often presents with marked neurological signs of rigid neck dysphagia, catatonia, hyper-reflexia and low IQ. The disease can now be treated with enzyme replacement using alglucerase, and there have been promising results with gene therapy.
Amidst the vast spectrum of genetic disorders, there exists a seldom encountered condition precipitated by an insufficiency of crucial enzymes responsible for the metabolic breakdown of fatty acids.
A genetic disorder in which the lack of the enzyme glucocerebrosidase leads to accumulation of a fatty substance, glucosylceramide, in the liver, spleen, bone marrow, and, sometimes, in the brain. The condition is treated by regular injections of the missing enzyme.