Aminoacidopathies in Andhra Pradesh; report of a screening programme.
A systematic and selective screening programme to detect disorders of amino acid metabolism was undertaken to gain insight into the incidence and prevalence of such disorders in the southern part of India. This region was selected due to the high incidence of consanguineous marriages. No earlier data were available. We based our study on mentally retarded children. We have attempted dietary therapy in two patients with phenylketonuria; the biochemical response in both cases was satisfactory. The highlight of this survey was the detection of a new metabolic defect, threoninaemia.
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy / Q000453:epidemiology* / Q000378:metabolism; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007194:India; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening; D010649:Phenylalanine / Q000378:metabolism
D010649:Phenylalanine