Causes type 1 Gaucher disease, a progressive genetic disease due to an enzyme defect. The enzyme, glucocerebrosidase, is needed to break down the chemical glucocerebroside. The enzyme defect leads to the progressive accumulation of glucocerebroside in the spleen, liver, and lymph nodes. Gaucher disease is the most common genetic disease in Ashkenazi Jews (those of European origin) and in American and Canadian of Jewish descent.
The most common early sign of the disease is enlargement of the spleen (located in the upper left abdomen). Other common signs include anemia, a decrease in blood platelets (clotting cells), increased pigmentation of the skin, and a yellow fatty spot on the white of the eye (called a pinguecula). Severe bone involvement can lead to pain and collapse of the bone of the hips, shoulders, and spine.
The gene for Gaucher disease (GD) is on chromosome 1. The disease is a recessive trait. Both heterozygous parents carry the GD gene and transmit it to their child with the disease. The risk for the carrier parents of having a child with the disease is 1 in 4 with each pregnancy.
Type 1 Gaucher disease is known alternatively as noncerebral juvenile Gaucher disease or glucocerebrosidase deficiency.
A hormone that predominantly affects the metabolism of carbohydrates and, to a lesser extent, fats and proteins (and has other effects). Glucocorticoids are made in the outside portion (the cortex) of the adrenal gland and chemically classed as steroids. Cortisol is the major natural glucocorticoid. The term glucocorticoid also applies to equivalent hormones synthesized in […]
A molecule derived from the sugar glucose by the addition of an amino group. Glucosamine is a component of a number of structures, including the blood group substances and cartilage. Glucosamine is currently in use as a nutritional supplement (often in combination with chondroitin) and is touted as a remedy for arthritic symptoms.
The simple sugar that is the chief source of energy. Glucose is found in the blood and is the main sugar that the body manufactures. The body makes glucose from all three elements of food’protein, fats, and carbohydrates’but the largest amount of glucose derives from carbohydrates. Glucose serves as the major source of energy for […]
- Glucose tolerance test
A test of carbohydrate metabolism that is used primarily in the diagnosis of type II diabetes and gestational diabetes. Abbreviated GTT. After the patient has fasted overnight, but before breakfast, a specific amount of glucose is given by mouth, and the blood levels of this sugar are measured every 30’60 minutes. The GTT result depends […]
- Glucose tolerance, impaired
Impaired glucose tolerance.