Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism

被引:71
作者
Coelho, JC
Wajner, M
Burin, MG
Vargas, CR
Giugliani, R
机构
[1] UNIV FED RIO GRANDE SUL,DEPT BIOCHEM,BR-90046900 PORTO ALEGRE,RS,BRAZIL
[2] UNIV FED RIO GRANDE SUL,DEPT GENET,BR-90046900 PORTO ALEGRE,RS,BRAZIL
关键词
inborn errors of metabolism; selective screening; biochemical genetics;
D O I
10.1007/s004310050685
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
The number of diagnosed inborn errors of metabolism (IEM) is growing constantly due to the improvement and widespread availability of analytical techniques. In 1982, a laboratory for the detection of IEM was set up in Porto Alegre, Brazil, and became a national reference centre for the diagnosis of these disorders. Ten thousand patients with signs and symptoms suggestive of IEM were investigated in our laboratory from 1982 to 1995 using specific protocols which included tests for the detection of glucosaminoglycans (GAGS), amino acids, sugars, oligosaccharides, sialyloligosaccharides, organic acids, as well as various metabolites. The biochemical investigation was completed in 9,901 patients and an IEM was detected in 647 cases (6.5%). Groups of IEM of higher incidence in our sample were lysosomal storage disorders (59.8%) and aminoacidopathies (21.2%). The disorders most frequently diagnosed were classical phenylketonuria, GM1 gangliosidosis, mucopolysaccharidosis type I, mucopolysaccharidosis type VI and metachromatic leukodystrophy. Conclusion This study shows that the establishment of reference centres for the investigation of rare genetic diseases is a suitable approach to the study of IEM in developing countries such as Brazil.
引用
收藏
页码:650 / 654
页数:5
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