Alkaptonuria: A genetic metabolic disorder due to deficiency of the enzyme homogentisic acid (HGA) dioxygenase. Deficiency of this enzyme leads to the three cardinal features of alkaptonuria --the presence of homogentisic acid in the urine, ochronosis (bluish-black pigmentation in connective tissue), and arthritis. See the entire definition of Alkaptonuria
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
Cartilage: Firm, rubbery tissue that cushions bones at joints. A more flexible kind of cartilage connects muscles with bones and makes up other parts of the body, such as the larynx and the outside parts of the ears.
Cell: The basic structural and functional unit in people and all living things. Each cell is a small container of chemicals and water wrapped in a membrane. See the entire definition of Cell
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
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
Genes: The basic biological units of heredity. Segments of deoxyribonucleic acid (DNA) needed to contribute to a function. See the entire definition of Genes
Genetic: Having to do with genes and genetic information.
Genetics: The scientific study of heredity. Genetics pertains to humans and all other organisms. So, for example, there is human genetics, mouse genetics, fruitfly genetics, etc. See the entire definition of Genetics
Heart: The muscle that pumps blood received from veins into arteries throughout the body. It is positioned in the chest behind the sternum (breastbone; in front of the trachea, esophagus, and aorta; and above the diaphragm muscle that separates the chest and abdominal cavities. The normal heart is about the size of a closed fist, and weighs about 10.5 ounces. It is cone-shaped, with the point of the cone pointing down to the left. Two-thirds of the heart lies in the left side of the chest with the balance in the right chest. See the entire definition of Heart
HGD: The gene encoding an enzyme called homogentisate 1,2-dioxygenase (also known as homogentisate oxidase). HGD is located on chromosome 3 in region 3q21-q23. See the entire definition of HGD
Incidence: The frequency with which something, such as a disease, appears in a particular population or area. In disease epidemiology, the incidence is the number of newly diagnosed cases during a specific time period. The incidence is distinct from the prevalence which refers to the number of cases alive on a certain date.
Kidney: One of a pair of organs located in the right and left side of the abdomen which clear "poisons" from the blood, regulate acid concentration and maintain water balance in the body by excreting urine. The kidneys are part of the urinary tract. The urine then passes through connecting tubes called "ureters" into the bladder. The bladder stores the urine until it is released during urination.
Ochronosis:1. Deposition of dark pigment in connective tissues, usually due to alkaptonuria or exposure to chemicals such as phenolic compounds or hydroquinone. 2. Sometimes used as a synonym for alkaptonuria.
Phenylalanine: An essential amino acid. (The human body cannot make it so it is essential to the diet.) Phenylalanine that is ingested is largely transformed (hydroxylated) to form the amino acid tyrosine, which is used in protein synthesis. Too little phenylalanine curbs physical and intellectual growth. Too much phenylalanine, as in phenylketonuria (PKU), is highly toxic to the brain. Phenylanine was first isolated in 1879 and first synthesized in 1882. Symbol: Phe. See the entire definition of Phenylalanine
Pigment: A substance that gives color to tissue. Pigments are responsible for the color of skin, eyes, and hair.
Pigmentation: The coloring of the skin, hair, mucous membranes, and retina of the eye. See the entire definition of Pigmentation
Prostate: A gland within the male reproductive system that is located just below the bladder. Chestnut shaped, the prostate surrounds the beginning of the urethra, the canal that empties the bladder. See the entire definition of Prostate
Proteins: Large molecules composed of one or more chains of amino acids in a specific order determined by the base sequence of nucleotides in the DNA coding for the protein. See the entire definition of Proteins
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
Spine: 1) The column of bone known as the vertebral column, which surrounds and protects the spinal cord. The spine can be categorized according to level of the body: i.e., cervical spine (neck), thoracic spine (upper and middle back), and lumbar spine (lower back). See also vertebral column. 2) Any short prominence of bone. The spines of the vertebrae protrude at the base of the back of the neck and in the middle of the back. These spines protect the spinal cord from injury from behind.
Substance:1. Material with particular features, as a pressor substance. 2. The material that makes up an organ or structure. Also known in medicine as the substantia. 3. A psychoactive drug as, for example, in substance abuse.
Tyrosine: An amino acid, one of the 20 building blocks of protein. A nonessential amino acid, tyrosine is produced from another amino acid, phenylalanine. Deficiency of the enzyme phenylalanine hydroxylase that catalyzes this reaction causes the genetic disease called phenylketonuria (PKU). Tyrosine is a precursor of thyroid hormones, catecholamines, and melanin. Symbol: Tyr.
Urine: Liquid waste. The urine is a clear, transparent fluid. It normally has an amber color. The average amount of urine excreted in 24 hours is from 40 to 60 ounces (about 1,200 cubic centimeters). Chemically, the urine is mainly an aqueous (watery) solution of salt (sodium chloride) and substances called urea and uric acid. Normally, it contains about 960 parts of water to 40 parts of solid matter. Abnormally, it may contain sugar (in diabetes), albumen (a protein) (as in some forms of kidney disease), bile pigments (as in jaundice), or abnormal quantities of one or another of its normal components.
Osteoarthritis is a type of arthritis caused by inflammation, breakdown, and eventual loss of
cartilage in the joints. Also known as degenerative arthritis. Osteoarthritis
can be caused by aging, heredity, and injury from trauma or disease.
Arthritis is inflammation of one or more joints. When joints are inflamed they can develop stiffness, warmth, swelling, redness and pain. There are over 100 types of
arthritis including osteoarthritis, rheumatoid arthritis, ankylosing spondylitis, psoriatic arthritis, lupus, gout,
and pseudogout.
Heart disease (coronary artery disease) is caused by a buildup of cholesterol deposits in the coronary arteries. Risk factors for heart disease include smoking, high blood pressure, heredity, diabetes, peripheral artery disease, and obesity. Symptoms include chest pain and shortness of breath. There are a variety of tests used to diagnose coronary artery disease. Treatment includes life-style changes, medications, procedures, or surgery.
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).
Arthritis is a joint disorder featuring inflammation. A joint is an area of the body where
two different bones meet. A joint functions to move the body parts connected by its bones.
Arthritis literally means inflammation of one or more joints.
Arthritis is frequently accompanied by joint pain. Joint pain is
referred to as arthralgia.
There are many types of arthritis (over 100 identified, and the number is growing). The types range from those related to wear and tear of cartilage (such as osteoarthritis) to those associated with inflammation resulting from an overactive immune system (such as rheumatoid arthritis). Together, the many types of arthritis make up the most common chronic illness in the United States.
The causes of arthritis depend on the form of arthritis. Causes include injury (leading to osteoarthritis), metabolic abnormalities (such as gout and pseudogout), hereditary facto...
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