Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism.
Eur J Pediatr
; 156(8): 650-4, 1997 Aug.
Article
in En
| MEDLINE
| ID: mdl-9266201
UNLABELLED: 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 metabolite. 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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Mass Screening
/
Metabolism, Inborn Errors
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Guideline
/
Incidence_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Limits:
Humans
Country/Region as subject:
America do sul
/
Brasil
Language:
En
Journal:
Eur J Pediatr
Year:
1997
Document type:
Article
Affiliation country:
Brazil
Country of publication:
Germany