Defect, enzyme


Defect, enzyme: 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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  • Defect, neural tube

    Defect, neural tube: A major birth defect caused by abnormal development of the neural tube, the structure present during embryonic life which gives rise to the central nervous system — the brain and spinal cord. Neural tube defects (NTDs) are among the most common birth defects that cause infant mortality (death) and serious disability. There […]

  • Defect, ventricular septal (VSD)

    Defect, ventricular septal (VSD): A hole in the septum (the wall) between the lower chambers of the heart (the ventricles). Ventricular Septal Defect is the most common type of heart malformation (congenital heart disease). At least 1 baby in every 500 is born with a VSD. A VSD lets blood from the left ventricle (where […]

  • Defensin

    Defensin: A family of potent antibiotics made within the body by neutrophils (a type of white blood cell) and macrophages (cells that can engulf foreign particles). The defensins play important roles against invading microbes. They act against bacteria, fungi and viruses by binding to their membranes and increasing membrane permeability. On a chemical level, the […]

  • Defensive medicine

    Defensive medicine: Medical practices designed to avert the future possibility of malpractice suits. In defensive medicine, responses are undertaken primarily to avoid liability rather than to benefit the patient. Doctors may order tests, procedures, or visits, or avoid high-risk patients or procedures primarily (but not necessarily solely) to reduce their exposure to malpractice liability. Defensive […]

  • Defibrillation

    Defibrillation: The use of a carefully controlled electric shock, administered either through a device on the exterior of the chest wall or directly to the exposed heart muscle, to normalize the rhythm of the heart or restart it.


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