Lexic.us

Definition of Inborn error of metabolism

1. Noun. Any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism.

Medical Definition of Inborn error of metabolism

1. A genetic biochemical disorder of a specific enzyme that forms a metabolic block, e.g., phenylketonuria. (05 Mar 2000)

Lexicographical Neighbors of Inborn Error Of Metabolism

Literary usage of Inborn error of metabolism

Below you will find example usage of this term as found in modern and/or classical literature:

1. Science by American Association for the Advancement of Science (1883)
"9 April 1970 • Enzyme Replacement in Fabry's Disease, an Inborn Error of Metabolism Abstract. Two patients with Fabry's disease were infused with normal ..."

2. Transactions of the Association of American Physicians by Association of American Physicians (1921)
"It is a freak of metabolism or, as Garrod so well expresses it, "an inborn error of metabolism." The error consists in a failure to complete the catabolism ..."

3. Monographic Medicine by William Robie Patten Emerson, Guido Guerrini, William Brown, Wendell Christopher Phillips, John Whitridge Williams, John Appleton Swett, Hans Günther, Mario Mariotti, Hugh Grant Rowell (1916)
"... are due to some inborn error of metabolism (Garrod). The origin of this endogenous pentose has not yet been satisfactorily studied. ..."

4. Contrasts in Scientific Style: Research Groups in the Chemical and by Joseph S. Fruton (1990)
"... and subsequent work (notably by Archibald Garrod [1857-1936]) showed alcaptonuria to be an "inborn error of metabolism" in which an important step in ..."

5. Foods and Their Adulteration: Origin, Manufacture, and Composition of Food by Harvey Washington Wiley (1917)
"... namely, obesity, which tendency may be transmitted by heredity, and might be characterized as an inborn error of metabolism. The capacity of the body to ..."

6. The Journal of Comparative Pathology and Therapeutics (1888)
"Experimental observations would suggest that muscular dystrophy in the duck is congenital and that it may result from an inborn error of metabolism, ..."

7. The International Journal of Orthodontia and Oral Surgery (1919)
"... if this is not so I should call it an "inborn error of metabolism." I know that I am going to be severely criticized by my friend Dr. Mummery, ..."

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