Abstract |
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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Authors | G Vaca, A Hernández, B Ibarra, A Velázquez, N Olivares, J Sanchez-Corona, C Medina, J M Cantú |
Journal | Archivos de investigacion medica
(Arch Invest Med (Mex))
Vol. 12
Issue 3
Pg. 341-8
( 1981)
ISSN: 0066-6769 [Print] Mexico |
PMID | 7294941
(Publication Type: Journal Article)
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Topics |
- Amino Acid Metabolism, Inborn Errors
(diagnosis)
- Carbohydrate Metabolism, Inborn Errors
(diagnosis)
- Glucosephosphate Dehydrogenase Deficiency
(diagnosis)
- Humans
- Infant, Newborn
- Metabolism, Inborn Errors
(blood, diagnosis, urine)
- Mexico
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