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

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 as...

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Bibliographic Details
Published in:	Early human development Vol. 50; no. 3; pp. 305 - 311
Main Authors:	Simoni, Ruth Ellen, de Oliveira, Cesário Paulo Honório, Grassiano, Denise Mattatia, de Carvalho dos Santos, Cláudia Maria Rangel, Baruque, Maria da Graça Araújo, Gomes, Luis Nelson Ferreira, de Souza Machado, Cristiane, Fernandes, Márcia Jusan, Braga, Marcela Jacqueline, de Albuquerque, Renata Moesia, de Oliveira, Maria Lúcia Costa
Format:	Journal Article
Language:	English
Published:	Lausanne Elsevier Ireland Ltd 27-02-1998 New York,NY Elsevier Amsterdam
Subjects:	Biological and medical sciences Blood Chemical Analysis Brazil Cerebrospinal Fluid - chemistry Child Child, Preschool High-risk children Humans Inborn errors of metabolism (IEM) Investigative techniques, diagnostic techniques (general aspects) Mass Screening Medical sciences Metabolic diseases Metabolism, Inborn Errors - prevention & control Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques Physiological fluids Risk Factors Screening Urine - chemistry South America Brazil America Screening High-risk children Physiological fluids Inborn errors of metabolism (IEM) Human Inborn Biological fluid High risk Biochemical analysis Clinical biology Metabolic diseases Medical screening Child Chromatography
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0378-3782 1872-6232
DOI:	10.1016/S0378-3782(97)00111-4