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 ).
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Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes.
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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.
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Bilirubin: A yellow-orange compound produced by the breakdown of hemoglobin from red blood cells.
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Chromosome: A visible carrier of the genetic information.
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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 .
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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).
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Dysfunction: Difficult function or abnormal function.
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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.
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Enzymes: Proteins that act as a catalysts in mediating and speeding a specific chemical reaction .
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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 ).
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Gene: The basic biological unit of heredity . A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genetic: Having to do with genes and genetic information.
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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.
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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.
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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.
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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.
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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.
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Metabolism: The whole range of biochemical processes that occur within us (or any living organism). Metabolism consists both of anabolism and catabolism (the buildup and breakdown of substances, respectively). 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.
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Offspring: The offspring are strictly speaking the progeny, or young, born to a person.
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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.
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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 ).
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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.
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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).
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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.
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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.
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- Liver Blood Tests - Learn about liver blood tests used to detect liver damage disease such as fatty liver, cirrhosis, hepatitis, Tylenol liver damage, and more. This includes measuring the aminotransferases enzymes (AST and ALT levels)
- Jaundice - Jaundice Jaundice is the yellowish staining of the skin and the whites of the eye. Jaundice has many causes.
- Puberty - Read about the physical changes of puberty (growth spurt, pubic hair, period, zits, breast development), hormones (testosterone, estrogen) and sexual maturity stages.
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