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homocystinuria

homocystinuria A genetic disease affecting the metabolism of the amino acid methionine and its conversion to cysteine, characterized by excretion of homocysteine and its derivatives. May result in mental retardation and early death from atherosclerosis and coronary thrombosis if untreated, as well as fractures of bones and dislocation of the lens of the eye. Treatment (which must be continued throughout life) is either by feeding a diet low in methionine and supplemented with cysteine or, in some cases by administration of high intakes of vitamin B6 (about 100–500 times the normal requirement).

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homocystinuria

homocystinuria (hoh-moh-sis-tin-yoor-iă) n. an inborn error of metabolism caused by an enzyme deficiency resulting in an excess of homocysteine in the blood and the presence of homocystine (an oxidized form of cysteine) in the urine. Clinically affected individuals are mentally retarded, excessively tall with long fingers (due to overgrowth of bones), and have a tendency to form blood clots in the veins and arteries, leading to strokes.

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"homocystinuria." A Dictionary of Nursing. . Encyclopedia.com. 27 May. 2018 <http://www.encyclopedia.com>.

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"homocystinuria." A Dictionary of Nursing. . Retrieved May 27, 2018 from Encyclopedia.com: http://www.encyclopedia.com/caregiving/dictionaries-thesauruses-pictures-and-press-releases/homocystinuria

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