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Aminoacidopathies in andhra pradesh; report of a screening programme
Author(s) -
Uma S. M.,
Jyothy A.,
Reddy P. P.,
Reddi O. S.
Publication year - 1982
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02179143
Subject(s) - incidence (geometry) , metabolic disease , mentally retarded , medicine , human genetics , consanguinity , consanguineous marriage , phenylketonurias , amino acid metabolism , pediatrics , metabolic disorder , environmental health , biology , genetics , metabolism , psychology , amino acid , phenylalanine , developmental psychology , physics , optics , gene
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.