Enzyme defect


Enzyme defect: A disorder resulting from a deficiency (or functional abnormality) of an enzyme. For example, newborns are routinely screened for certain enzyme defects, such as phenylketonuria (PKU) and galactosemia.

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  • Enzyme replacement

    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

    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 […]

  • Enzyme, restriction

    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 […]

  • Enzyme, Warburg's yellow

    Enzyme, Warburg’s yellow: A key respiratory enzyme discovered by the German biochemist Otto Heinrich Warburg (1883-1970), a pioneer in research on the respiration of cells and the metabolism of tumors. Warburg’s yellow enzyme is a flavoprotein that catalyzes an oxidation-reduction reaction that is necessary for normal breathing, or use of oxygen, of cells. Warburg won […]

  • Enzymes

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


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