Abstract
SYNOPSIS The application of the techniques of high voltage electrophoresis (HVE) of amino acid and gas liquid chromatography (GLC) of organic acids to urine samples from patients with acute metabolic illness in infancy is described. Inborn errors of metabolism have been diagnosed in 8 patients in Melbourne in 2 years. Lactic-pyruvic acidosis has been the most frequent group of conditions (3 cases), but no therapeutic success has been achieved in these babies or in 2 babies with severe non-ketotic hyperglycinaemia. Remarkable success has been achieved in a baby with severe citrullinaemia and in a newly described defect in phenolic acid metabolism.
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