Detection of inborn errors of metabolism in 1,117 patients studied because of suspected inherited disease.
Results of screening tests for the detection of inborn errors of metabolism in 1,117 consecutive patients are reported in this work; patients came for a second consultation to the Departamento de Genética, Centro Médico de Occidente, IMSS. Simple qualitative test were made that revealed the presence of abnormal metabolites (amino-acids, sugars, organic acids and mucopolysaccharides) in urine and blood as well as identification tests for variant proteins. Results were positive in 138 patients and test for confirmation and/or specificity were made in all patients; in 35 the following diagnosis and incidence were established: classic galactosemia, 2; glucose-6-phosphate dehydrogenase deficiency, 20; essential pentosuria, 1; hyperphenylalaninemia, 5; blue diaper syndrome, 1; cistinuria 1, and type 1 mucopolysaccharidosis, 5.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000652:urine; D008800:Mexico