The following are health and medical definitions of terms that appear in the Gilbert Syndrome article.
Abnormal: Not normal. Deviating from the usual structure, position, condition, or behavior. In referring to a growth, abnormal may mean that it is cancerous or premalignant (likely to become cancer).
Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes. See the entire definition of Autosomal
Autosomal recessive: A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent. The gene is on an autosome, a nonsex chromosome. The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene. See the entire definition of Autosomal recessive
Bilirubin: A yellow-orange compound produced by the breakdown of hemoglobin from red blood cells.
Chromosome: A visible carrier of the genetic information. See the entire definition of Chromosome
Chromosome 2: The second largest chromosome in the human genome. Chromosome 2 contains over 240 million base pairs and more than 2500 genes, including the ETM2 gene for essential tremor, the MSH2 and MSH6 genes for colon cancer, and the PAX3 gene for Waardenburg syndrome. See the entire definition of Chromosome 2
Dehydration: Excessive loss of body water. Diseases of the gastrointestinal tract that cause vomiting or diarrhea may, for example, lead to dehydration. There are a number of other causes of dehydration including heat exposure, prolonged vigorous exercise (e.g., in a marathon), kidney disease, and medications (diuretics). See the entire definition of Dehydration
Enzyme: A protein (or protein-based molecule) that speeds up a chemical reaction in a living organism. An enzyme acts as catalyst for specific chemical reactions, converting a specific set of reactants (called substrates) into specific products. Without enzymes, life as we know it would not exist. See the entire definition of Enzyme
Enzymes: Proteins that act as a catalysts in mediating and speeding a specific chemical reaction. See the entire definition of Enzymes
Essential:1. Something that cannot be done without. 2. Required in the diet, because the body cannot make it. As in an essential amino acid or an essential fatty acid. 3. Idiopathic. As in essential hypertension. "Essential" is a hallowed term meaning "We don't know the cause."
Familial: A condition that is tends to occur more often in family members than expected by chance alone. A familial disease may be genetic (such as cystic fibrosis) or environmental (such as tuberculosis).
Fasting: going without food or drink. Patients may be advised to fast for a certain period of time prior to surgery, medical procedures, or certain blood tests.
Gene: The basic biological unit of heredity. A segment of deoxyribonucleic acid (DNA) needed to contribute to a function. See the entire definition of Gene
Genetic: Having to do with genes and genetic information.
Gilbert syndrome: A common, harmless genetic condition in which a liver enzyme essential to the disposal of bilirubin (the chemical that results from the normal breakdown of hemoglobin from red blood cells) is abnormal. The abnormality is caused by a mutation the UDP-glucuronosyltransferase gene. See the entire definition of Gilbert syndrome
Hemoglobin: The oxygen-carrying pigment and predominant protein in the red blood cells. Hemoglobin forms an unstable, reversible bond with oxygen. In its oxygenated state it is called oxyhemoglobin and is bright red. In the reduced state it is called deoxyhemoglobin and is purple-blue. See the entire definition of Hemoglobin
Hepatic: Having to do with the liver. Pronounced hi-'pa-tik. From the Latin hepaticus derived from the Greek hepar meaning (not too surprisingly) the liver.
Hormone: A chemical substance produced in the body that controls and regulates the activity of certain cells or organs. See the entire definition of Hormone
Hyperbilirubinemia: An elevated level of the pigment bilirubin in the blood. A sufficient elevation will produce jaundice. Some degree of hyperbilirubinemia is very common in babies right after birth, especially premies.
Inheritance: Not something that is contained in a will, but rather a gene, chromosome or genome that is transmitted from parent to child. See the entire definition of Inheritance
Jaundice: Yellow staining of the skin and sclerae (the whites of the eyes) by abnormally high blood levels of the bile pigment bilirubin. The yellowing extends to other tissues and body fluids. Jaundice was once called the "morbus regius" (the regal disease) in the belief that only the touch of a king could cure it. See the entire definition of Jaundice
Liver: An organ in the upper abdomen that aids in digestion and removes waste products and worn-out cells from the blood. The liver is the largest solid organ in the body. The liver weighs about three and a half pounds (1.6 kilograms). It measures about 8 inches (20 cm) horizontally (across) and 6.5 inches (17 cm) vertically (down) and is 4.5 inches (12 cm) thick.
Metabolism: The whole range of biochemical processes that occur within an organism. Metabolism consists both of anabolism and catabolism (the buildup and breakdown of substances, respectively). The biochemical reactions are known as metabolic pathways and involve enzymes that transform one substance into another substance, either breaking down a substance or building a new chemical substance. The term is commonly used to refer specifically to the breakdown of food and its transformation into energy.
Mutation: A permanent change, a structural alteration, in the DNA or RNA. In humans and many other organisms, mutations occur in DNA. However, in retroviruses like HIV, mutations occur in RNA which is the genetic material of retroviruses. See the entire definition of Mutation
Offspring: The offspring are strictly speaking the progeny, or young, born to a person. See the entire definition of Offspring
Pigment: A substance that gives color to tissue. Pigments are responsible for the color of skin, eyes, and hair.
Prognosis:1. The expected course of a disease. 2. The patient's chance of recovery. The prognosis predicts the outcome of a disease and therefore the future for the patient. His prognosis is grim, for example, while hers is good. See the entire definition of Prognosis
Promoter: In molecular biology, a site on DNA to which the enzyme RNA polymerase can bind and initiate the transcription of DNA into RNA.
Puberty: A complex biologic and psychologic process involving sexual development, accelerated growth, and adrenal maturation heralded by the secretion of gonadotropin releasing hormone (GnRH) from a part of the brain called the hypothalamus. This event is the first known step in the reproductive cascade. It initiates the pulsatile release of gonadotropins, gonadal secretion of sex steroids, pubertal development, and gametogenesis (the production of sperm and ova). See the entire definition of Puberty
Recessive: A condition that appears only in individuals who have received two copies of a mutant gene, one copy from each parent. The individuals with a double dose of the mutated gene are called homozygotes. Their parents, each with a single dose of the mutated gene, appear normal and are called heterozygotes, or gene carriers. See the entire definition of Recessive
Red blood cells: The blood cells that carry oxygen. Red cells contain hemoglobin and it is the hemoglobin which permits them to transport oxygen (and carbon dioxide). Hemoglobin, aside from being a transport molecule, is a pigment. It gives the cells their red color (and their name). See the entire definition of Red blood cells
Serum: The clear liquid that can be separated from clotted blood. Serum differs from plasma, the liquid portion of normal unclotted blood containing the red and white cells and platelets. It is the clot that makes the difference between serum and plasma. See the entire definition of Serum
Syndrome: A set of signs and symptoms that tend to occur together and which reflect the presence of a particular disease or an increased chance of developing a particular disease. See the entire definition of Syndrome
Jaundice is a yellowish staining of the skin and whites of the eyes (sclerae) with bilirubin, the pigment found in bile. Jaundice can be an indicator of liver or gallbladder disease, or it may result from the rupture of red blood cells (hemolysis).
The time when boys and girls begin the process of sexual maturation is called puberty. During this time, both sexes undergo a series of biological changes that include a rapid increase in height, bone growth, weight increase, the growth of pubic hair, breast development and the onset of menstruation in girls, and testicle, penis, and muscle enlargement in boys.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Digestion is the complex process of turning food you eat into the energy you need to survive. The digestive process also involves creating waste to be eliminated, and is made of a series of muscles that coordinate the movement of food.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
The liver, located in the right upper portion of the abdominal cavity just
beneath the right side of the rib cage, has many vital functions. Briefly, some
of these functions are:
Detoxification of blood
Production of important clotting factor and other important proteins
Metabolizing (processing) medications and nutrients
Processing of waste products of hemoglobin
Storing of vitamins, fat, cholesterol, and bile
Production of glucose
What are common liver blood tests?
Liver blood tests are some of the most commonly performed blood tests. These tests can assess liver functions or liver injury. An initial step in detecting liver damage is a simple blood test to determine the presence of certain liver enzymes (proteins) in the blood. Under normal circumstances, these enzymes reside within the cells of the liv...
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