Jhetstudy Of Inborn Errors Of Amino Acid Metabolism In Mentally Retarded Subjects In Ethiopia
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Inborn errors of amino acid metabolism are directly related to the absence of an enzymerninvolved in the metabolism of one or more amino acids, so that those amino acids increaserngreatly in plasma concentration and urinary excretion rates. Most of these inborn errors ofrnamino acid metabolism are associated with mental retardation.rnUrine specimens from 345 mentally retarded subjects have been analyzed using qualitativernchemical tests and one-dimensional paper chromatography in order to detect any inborn errorsrnof amino acid metabolism which could be associated with mental retardation. The followingrnamino acid abnormalities were discovered: Homocystinuria, 1 case (0.29%); Amino acidrnmalabsorption, 1 case (0.29%); indicanuria, 1 case (0.29); Generalized aminoaciduria, 6 casesrn(1.78%).
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