Deficiency, UDP-glucuronosyltransferase: Underactivity of a liver enzyme that is essential to the disposal of bilirubin (the chemical that results from the normal breakdown of hemoglobin from red blood cells).
The deficiency of this enzyme (UDP-glucuronosyltransferase) results in a condition called Gilbert’s disease in which there are mild elevations of bilirubin pigment in the blood. The elevated bilirubin pigment can sometimes cause mild yellowing (jaundice) of the eyes. People with Gilbert’s disease are otherwise entirely normal with no other signs or symptoms and their liver enzymes in blood serum are also entirely normal.
There is no need for treatment, and the prognosis (outlook) is excellent.
The gene for UDP-glucuronosyltransferase has been mapped a non-sex chromosome (chromosome 2). A single dose of the Gilbert version of the gene is enough to produce Gilbert’s disease. The condition is said therefore to be an autosomal dominant trait. If someone has Gilbert’s disease, the chance of their transmitting the Gilbert gene to each of their children is one-half (50%) and each child who gets the gene gets Gilbert’s disease.
Gilbert’s disease is a frequent finding in people in the U.S. and Europe. The condition is usually detected in the course of routine blood screening. Gilbert’s disease is an enzyme abnormality of no health consequence.
- Deficiency, vitamin K
Deficiency, vitamin K: A lack of vitamin K resulting in an increase in the clotting time of the blood, impaired clotting and a tendency to excessive bleeding. Blood clotting is delayed or prevented because vitamin K is unavailable to act as an essential element (a cofactor) in the body’s production of four necessary coagulation (clotting) […]
- Deficiency, zinc
Deficiency, zinc: According to the National Academy of Sciences, the Recommended Dietary Allowance of zinc is 8 milligrams per day for women age 19+ years and 11 milligrams per day for men age 19+ years. Food sources of zinc include meat including liver, eggs, seafood, nuts and cereal. Deficiency of zinc is associated with short […]
Deformation: A change from the normal size or shape of an anatomic structure due to mechanical forces that distort an otherwise normal structure. Deformations occur most often late in pregnancy or during delivery. A twin pregnancy can cause deformations due to crowding of the twins late in pregnancy. A well-known example of a deformation is […]
- Deformity, cauliflower-ear
Destruction of the underlying cartilage framework of the outer ear (pinnae), usually caused by either infection or trauma, resulting in a thickening of the ear. Classically, blood collects (hematoma) between the ear cartilage and the skin. There is a marked thickening of the entire ear which may be so extensive that the shape of the […]
- Degenerative arthritis
Degenerative arthritis: A type of arthritis caused by inflammation, breakdown, and eventual loss of the cartilage of the joints. Degenerative arthritis is the most common form of arthritis, usually affecting the hands, feet, spine, and large weight-bearing joints, such as the hips and knees. Also known as osteoarthritis and degenerative joint disease.