Medical Glossary

This glossary contains:
19186
medical terms

Enzyme defect




Enzyme defect

A disorder resulting from a deficiency (or functional abnormality) of an enzyme. In 1902 Archibald Garrod first attributed a disease to an enzyme defect: an inborn error of metabolism. Today, newborns are routinely screened for certain enzyme defects such as PKU (phenylketonuria) and galactosemia, an error in the handling (metabolism) of the sugar galactose.

RELATED TERMS
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Enzyme
A cellular protein whose shape allows it to hold together several other molecules in close proximity to each other. In this way, enzymes are able to induce chemical reactions in other substances with little expenditure of energy and without being changed themselves. Basically, an enzyme acts as a catalyst.

Disease
Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.

Metabolism
The chemical activity that occurs in cells, releasing energy from nutrients, or using energy to create other substances, such as proteins.

Today
Today is a prescription or over-the-counter drug which is (or once was) approved in the United States and possibly in other countries. Active ingredient(s): nonoxynol-9.

Galactosemia
A disease present at birth caused by a genetic lack of an enzyme needed to metabolize galactose into glucose. May result in mental retardation, cataracts and liver damage.

Sugar
A class of carbohydrates that taste sweet. Sugar is a quick and easy fuel for the body to use. Types of sugar are lactose, glucose, fructose, and sucrose.

Galactose
A type of sugar found in milk products and sugar beets. It is also made by the body. It is considered a nutritive sweetener because it has calories.



SIMILAR TERMS
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Enzyme
A cellular protein whose shape allows it to hold together several other molecules in close proximity to each other. In this way, enzymes are able to induce chemical reactions in other substances with little expenditure of energy and without being changed themselves. Basically, an enzyme acts as a catalyst.

Enzyme (natural catalyst)
Any of numerous proteins and protein-nonprotein compounds that living cells produce and that can initiate, or affect the speed of, specific chemical reactions.

Enzyme linked immunosorbent assay (ELISA)
A blood test used to find Helicobacter pylori bacteria. Also used to diagnose an ulcer.

Enzyme replacement
A strategy designed to replace missing enzyme activity in a patient. This strategy currently involves the administration of a purified protein (the enzyme) by intravenous infusion.

Enzyme, lysosomal
An enzyme in an organelle (a little organ) called the lysosome within the cell. Lysosomal enzymes degrade (break down) macromolecules (large molecules) and other materials (such as bacteria) that have been taken up by the cell during the process of endocytosis. In endocytosis, macromolecules and particles from outside the cell are taken up by the cell via a progressive invagination (inpouching) and eventual pinching off of a region of the cell membrane, forming a membrane-bound vesicle (bubble) within the cytoplasm of the cell. The vesicle then fuses with the lysosome and the lysosomal enzymes carry out their appointed task of destruction (by hydrolysis). Quite amazingly, the lysosomal enzymes do not normally damage the cell itself.

Enzyme, restriction
An enzyme from bacteria that can recognize specific base sequences in DNA and cut the DNA at that site (the restriction site). A restriction enzyme acts as a biochemical scissors. Also called a restriction endonuclease. Bacteria use restriction enzymes to defend against bacterial viruses called bacteriophages (or phage). When a phage infects a bacterium, it inserts its DNA into the bacterium so that it is replicated. The restriction enzyme prevents replication of the phage DNA by cutting it into many pieces. Restriction enzymes were named for their ability to restrict, or limit, the number of strains of bacteriophage that can infect bacteria.

Enzyme-linked immunosorbent assay (ELISA)
An assay in which an enzyme is linked to an antibody and a coloured substrate is used to measure the activity of bound enzyme and, hence, the amount of bound antibody.

Enzymes
Proteins that act as a catalysts in mediating and speeding a specific chemical reaction.

Enzymes, yellow
A group of respiratory enzymes that catalyze reactions in the body permitting cells to respire or breathe. These biochemical reactions are termed oxidation-reduction reactions.



PREVIOUS AND NEXT TERMS
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Environment
The sum of the total of the elements, factors and conditions in the surroundings which may have an impact on the development, action or survival of an organism or group of organisms. The environment is as opposed to genetics. We are the product of our genetic inheritance and our environment.

Environmental medicine
The interactions between risk factors in the environment and human health. Environmental medicine focuses on the causes of disease in an environmental context. The environment creates exposures to many different physical, biological and chemical agents. Environmental exposures may be general such as to UV-irradiation from the sun or specific such as to toxic mushrooms and dioxin. Current concerns in environmental medicine include but are by no means limited to the environmental contributions to cancer, ozone depletion and its effects on health, global warming, air pollution, airborne allergens, water pollution, contaminated sites, nuclear accidents, radon, mercury and cadmium toxicity to the kidney, and food poisoning.

Environmental tobacco smoke
Abbreviated ETS. Secondhand smoke. See: ETS.

Environmental toxicology
The toxicity and toxicology of environmental pollutants in air, dust, sediment, soil and water, and natural toxins in the environment.

Enzootic
Endemic in animals. An enzootic disease is constantly present in an animal population, but usually only affects a small number of animals at any one time.

Enzyme defect

Enzyme replacement
A strategy designed to replace missing enzyme activity in a patient. This strategy currently involves the administration of a purified protein (the enzyme) by intravenous infusion.

Enzyme, lysosomal
An enzyme in an organelle (a little organ) called the lysosome within the cell. Lysosomal enzymes degrade (break down) macromolecules (large molecules) and other materials (such as bacteria) that have been taken up by the cell during the process of endocytosis. In endocytosis, macromolecules and particles from outside the cell are taken up by the cell via a progressive invagination (inpouching) and eventual pinching off of a region of the cell membrane, forming a membrane-bound vesicle (bubble) within the cytoplasm of the cell. The vesicle then fuses with the lysosome and the lysosomal enzymes carry out their appointed task of destruction (by hydrolysis). Quite amazingly, the lysosomal enzymes do not normally damage the cell itself.

Enzyme, restriction
An enzyme from bacteria that can recognize specific base sequences in DNA and cut the DNA at that site (the restriction site). A restriction enzyme acts as a biochemical scissors. Also called a restriction endonuclease. Bacteria use restriction enzymes to defend against bacterial viruses called bacteriophages (or phage). When a phage infects a bacterium, it inserts its DNA into the bacterium so that it is replicated. The restriction enzyme prevents replication of the phage DNA by cutting it into many pieces. Restriction enzymes were named for their ability to restrict, or limit, the number of strains of bacteriophage that can infect bacteria.

Enzymes
Proteins that act as a catalysts in mediating and speeding a specific chemical reaction.

Enzymes, yellow
A group of respiratory enzymes that catalyze reactions in the body permitting cells to respire or breathe. These biochemical reactions are termed oxidation-reduction reactions.

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This dictionary contains 19186 terms.







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