Inherited metabolic disorders
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Inherited metabolic disorders

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Inherited metabolic disorders are genetic circumstances that result in metabolism problems. Most people with inherited metabolic circumstances have a faulty gene that results in an enzyme deficiency.

Inherited metabolic disorders are genetic circumstances that result in metabolism problems. Most people with inherited metabolic circumstances have a faulty gene that results in an enzyme deficiency.

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    Inherited metabolic disorders Inherited metabolic disorders Presentation Transcript

    • Inherited metabolic disorders refer to different types of medical conditions caused by genetic defects most commonly inherited from both parents that interfere with the body's metabolism. Metabolism is the complex set of chemical reactions that your body uses to maintain life, including energy production.
    • The field of inherited disorders of the nervous system has undergone major revolutions in the past 150 years. The 19th century saw the first systemic approach to disease through the use of rational, consistent outlines for taking histories and doing physical examinations. Scientific methods were applied to pathology and clinical medicine because of discoveries in physics and chemistry (both organic and inorganic)
    •  Lethargy  Poor appetite  Abdominal pain  Vomiting  Weight loss  Jaundice  Failure to gain weight or grow  Developmental delay  Seizures  Coma
    •  Inherited metabolic disorders are present at birth, and some are detected by routine screening. All 50 states screen newborns for phenylketonuria (PKU). Most states also test newborns for galactosemia. However, no state tests babies for all known inherited metabolic disorders.  Improved testing technology is leading many states to expand newborn screening for genetic metabolic disorders.
    • Treatments for genetic metabolic disorders follow a few general principles: Reduce or eliminate intake of any food or drug that can't be metabolized properly.  Replace the enzyme or other chemical that is missing or inactive, to restore metabolism to as close to normal as possible.  Remove toxic products of metabolism that accumulate due to the metabolic disorder.