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Metabolic Disorders

Screening And Future Treatment

The two most powerful tools available for diagnosis and treatment of most metabolic disorders are genetic screening and genetic engineering. Most genetic metabolic disorders can be detected through prenatal testing, a service that helps people determine the likelihood of conceiving a child affected by a particular disorder. People who test positive as carriers have one copy of the recessively inherited gene linked to the disorder.

Genetic therapy is already being used to treat an enzyme deficiency known as adenosine deaminase deficiency (ADA). Children with ADA have severe immune system problems and considerably shortened life expectancies. Treatment of ADA involves gene replacement in which a normal copy of the ADA gene is replaced in cells that are then injected into the patient. Gene replacement has proven effective in helping patients lead normal lives. Research on gene therapy for other genetic disorders is ongoing.



Guyton & Hall. Textbook of Medical Physiology. 10th ed. New York: W. B. Saunders Company, 2000.

Modell, B., and M. Modell. Towards a Healthy Baby: Congenital Disorders and the New Genetics in Primary Care. New York: Oxford University Press, 1992.

Scriver, Charles R., et al. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill Professional Book Group, 2001.

Louise Dickerson


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—The construction of complex molecules from simpler molecules by a metabolic process that usually requires energy input.


—The break down of complex molecules into simpler molecules by a metabolic process that usually releases energy stored in the chemical bonds of the complex molecules.

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Science EncyclopediaScience & Philosophy: Mathematics to Methanal trimerMetabolic Disorders - Inborn Metabolic Disorders, Endocrine Metabolic Disorders, Screening And Future Treatment