Amino acid: One of the 20 building blocks of protein . The sequence of amino acids in a protein and, hence, the function of that protein are determined by the genetic code in the DNA .
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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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Brain: That part of the central nervous system that is located within the cranium ( skull ). The brain functions as the primary receiver, organizer and distributor of information for the body. It has two (right and left) halves called "hemispheres."
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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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Eczema: A particular type of inflammatory reaction of the skin in which there are typically vesicles (tiny blister-like raised areas) in the first stage followed by erythema (reddening), edema (swelling), papules (bumps), and crusting of the skin followed, finally, by lichenification (thickening) and scaling of the skin. Eczema characteristically causes itching and burning of the skin.
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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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Microcephaly: An abnormally small head due to failure of brain growth. In precise terms, microcephaly is a head circumference that is more than 2 standard deviations below the normal mean for age, sex, race, and gestation . (Some authorities define microcephaly as more than 3 standard deviations below the mean.)
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Nerve: A bundle of fibers that uses chemical and electrical signals to transmit sensory and motor information from one body part to another. See: Nervous system.
Newborn screening: Tests of newborns to screen for serious treatable diseases most of which are genetic. The newborn screening tests done in the United States are decided on a state-by-state basis. The most common newborn screening tests in the US include those for hypothyroidism (underactivity of the thyroid gland), PKU ( phenylketonuria ), galactosemia, and sickle cell disease . Testing for hypothyroidism and PKU is required in virtually all States.
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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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Phenylalanine hydroxylase deficiency: The inherited inability to process the amino acid phenylalanine normally, due to deficiency of the enzyme phenylalanine hydroxylase. This deficiency is caused by mutation in the PAH gene (on chromosome 12 in band 12q23.2). Hundreds of different disease-causing mutations have been found in the PAH gene.
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Phenylketonuria : The inherited inability to metabolize (process) the essential amino acid phenylalanine due to complete or near-complete deficiency of the enzyme phenylalanine hydroxylase.
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PKU: Short for phenylketonuria. See: Phenylketonuria.
Pregnancy : The state of carrying a developing embryo or fetus within the female body. This condition can be indicated by positive results on an over-the-counter urine test, and confirmed through a blood test, ultrasound, detection of fetal heartbeat, or an X-ray. Pregnancy lasts for about nine months, measured from the date of the woman's last menstrual period (LMP). It is conventionally divided into three trimesters, each roughly three months long.
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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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Psychiatric: Pertaining to or within the purview of psychiatry , the medical specialty concerned with the prevention, diagnosis , and treatment of mental illness.
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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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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.
- Eczema - Get information about eczema causes, skin symptoms, diagnosis and treatment. Types include dyshidrotic, atopic dermatitis, nummular, varicose and seborrheic eczema.
- Miscarriage - Read about the possible causes for a miscarriage such as chromosomal abnormalities, diseases such as lupus, diabetes, thyroid disorders, and others.
- Seizure (Epilepsy) - Learn about epilepsy, or seizure disorder. Causes include head injury, trauma, prenatal injury, poisoning, medications, stroke, heart attacks, alcoholism, infection, and more. Symptoms, diagnosis, and treatment information is included in the information.
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