Screening for inborn errors of metabolism in high-risk children from Rio de Janeiro, Brazil

Early Human Development
Ruth Ellen SimoniM L de Oliveira

Abstract

From 1988 to 1995, our laboratory at the Institute of Chemistry of the Federal University of Rio de Janeiro, in Rio de Janeiro, screened 2650 samples from 2000 high-risk patients (mostly children) for Inborn Errors of Metabolism (IEM). Chemical tests, various chromatographic techniques and enzyme assays were performed on urine, plasma and in some cases, cerebrospinal fluid (CSF). A total of 145 cases of IEM (7.2%) was identified. These were related to: the metabolism of amino acids (41) and carbohydrates (17), organic acids (7), lysosomal enzymes (61), membrane transport system (16), metals (2), intestinal disaccharidases (1) and porphyrin metabolism (3). Furthermore, a relevant number of patients with abnormal findings is still under investigation. Biochemical results and clinical symptoms are presented and the importance of reference laboratories for the detection of IEM is stressed.

References

Feb 1, 1976·Analytical Biochemistry·C P Dietrich, S M Dietrich
Mar 15, 1979·Clinica Chimica Acta; International Journal of Clinical Chemistry·A C Sewell
Aug 1, 1972·Clinica Chimica Acta; International Journal of Clinical Chemistry·R Humbel, N A Chamoles
Aug 28, 1974·Journal of Chromatography·H C Mehta, A S Saini

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Citations

Jul 1, 2004·Indian Journal of Clinical Biochemistry : IJCB·M SwarnaP P Reddy
Nov 28, 2001·São Paulo Medical Journal = Revista Paulista De Medicina·A Chiaratti de OliveiraV D'Almeida

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