Inherited defects of body chemistry. Inborn errors of metabolism are caused by single gene defects, which lead to abnormal functioning of an enzyme.
Some of these gene defects are harmless, but others are severe enough to result in death or physical or mental handicap. Examples include Tay–Sachs disease, phenylketonuria, Hurler’s syndrome, and Lesch–Nyhan syndrome. Collectively, inborn errors of metabolism affect around 1 child in 5,000.
Symptoms are usually present at or soon after birth. They may include unexplained illness or failure to thrive, developmental delay, floppiness, persistent vomiting, or seizures.
Routine tests are performed on newborn babies for some genetic disorders, such as phenylketonuria.
Treatment is not needed for some inborn errors of metabolism. For others, avoidance of a specific environmental factor may be sufficient. In some cases, the missing enzyme or the protein that it produces can be manufactured using genetic engineering techniques, or a vitamin supplement can help compensate for the defective enzyme. If the enzyme is made in blood cells, a bone marrow transplant may provide a cure.
People with a child or a close relative who is affected may benefit from genetic counselling before planning a pregnancy.
A process by which the body destroys and excretes drugs, so limiting their duration of action. Phase 1 metabolism consists of transformation by oxidation, reduction, or hydrolysis. In phase 2 this transformed product is conjugated (joined up) with another molecule to produce a water-soluble product which is easier to excrete.... drug metabolism
a process in which a drug administered by mouth is absorbed from the gastrointestinal tract and transported via the portal vein to the liver, where it is metabolized. As a result, in some cases only a small proportion of the active drug reaches the systemic circulation and its intended target tissue. First-pass metabolism can be bypassed by giving the drug via sublingual or buccal routes.... first-pass metabolism
any one of a group of inherited conditions in which there is a disturbance in either the structure, synthesis, function, or transport of protein molecules. There are over 1500 inborn errors of metabolism; examples are *phenylketonuria, *homocystinuria, and *hypogammaglobulinaemia.... inborn error of metabolism
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