Detection of inborn errors of metabolism in 1,117 patients studied because of suspected inherited disease
Vaca, G.; Hernández, A.; Ibarra, B.; Velázquez, A.; Olivares, N.; Sanchez-Corona, J.; Medina, C.; Cantú, J.M.
Archivos de Investigacion Medica 12(3): 341-348
1981
ISSN/ISBN: 0066-6769 PMID: 7294941 Document Number: 397
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.
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