AKU: Alkaptonuria.
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 .
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Amino acids: The building blocks of polypeptides and proteins.
Arthritis: Inflammation of a joint. When joints are inflamed they can develop stiffness, warmth, swelling, redness and pain. There are over 100 types of arthritis. (see osteoarthritis, rheumatoid arthritis, ankylosing spondylitis, psoriatic arthritis, lupus, gout, pseudogout).
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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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 .
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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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Gene: The basic biological unit of heredity . A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genes: The basic biological units of heredity . Segments of deoxyribonucleic acid (DNA) needed to contribute to a function.
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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.
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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.
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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.
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Homogentisate oxidase: The enzyme encoded in the HGD gene. Mutation of HGD causes the genetic disease alkaptonuria. Homogentisate oxidase is also called Homogentisate 1,2-dioxygenase .
Homogentisic acid oxidase deficiency: Alkaptonuria.
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.
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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.
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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.
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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.
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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.
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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.
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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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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 - Osteoarthritis (OA or degenerative arthritis) is a joint disease caused by cartilage loss in a joint. Pain and stiffness are symptoms. Read about diagnosis and treatment.
- Arthritis - Arthritis symptoms include pain, joint inflammation and swelling. Get the facts on arthritis types, causes, research information, statistics and diagnosis.
- Heart Disease - Learn about heart disease causes like smoking, diabetes, high blood pressure, and obesity. Symptoms of heart disease include chest pain and shortness of breath. Diagnosis, treatment, and prevention information is included.
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