Jhetstudy of Inborn Errors of Amino Acid Metabolism in Mentally Retarded Subjects in Ethiopia
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Date
1997-02
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Addis Ababa Universty
Abstract
Inborn errors of amino acid metabolism are directly related to the absence of an enzyme
involved in the metabolism of one or more amino acids, so that those amino acids increase
greatly in plasma concentration and urinary excretion rates. Most of these inborn errors of
amino acid metabolism are associated with mental retardation.
Urine specimens from 345 mentally retarded subjects have been analyzed using qualitative
chemical tests and one-dimensional paper chromatography in order to detect any inborn errors
of amino acid metabolism which could be associated with mental retardation. The following
amino acid abnormalities were discovered: Homocystinuria, 1 case (0.29%); Amino acid
malabsorption, 1 case (0.29%); indicanuria, 1 case (0.29); Generalized aminoaciduria, 6 cases
(1.78%).
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Keywords
Amino Acid Metabolism