Screening for inborn errors of metabolism using automated electrospray tandem mass spectrometry: study in high-risk Indian population.
Clin Biochem
; 43(6): 581-8, 2010 Apr.
Article
em En
| MEDLINE
| ID: mdl-20026021
ABSTRACT
OBJECTIVES:
Tandem mass spectrometry is a major technological advance in the screening for inborn errors of metabolism. It has the advantage of sensitive and simultaneous multiple disease screening with minimal sample requirement. The diseases detected include aminoacidemias, fatty acid oxidation disorders, and organic acidemias. DESIGN ANDMETHODS:
Using automated electrospray tandem mass spectrometry we screened 3550, clinically selected, symptomatic children for inborn errors of metabolism by analyzing amino acids and acylcarnitines in dried blood filter-paper samples.RESULTS:
Among these, 113 (3.2%) children were identified with a metabolic disorder 61 (54%) patients had amino acid disorders, 47 (41.6%) had organic acidemias, and 5 (4.4%) children had disorders of fatty acid oxidation. The diagnoses were further confirmed through clinical symptoms, and other biochemical studies.CONCLUSIONS:
These results show that inherited metabolic disorders are not rare in India, a rapidly developing country with a high birth rate and relatively frequent occurrence of consanguineous marriages.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Programas de Rastreamento
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Espectrometria de Massas por Ionização por Electrospray
/
Espectrometria de Massas em Tandem
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Erros Inatos do Metabolismo
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Evaluation_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Limite:
Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Newborn
País/Região como assunto:
Asia
Idioma:
En
Revista:
Clin Biochem
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Índia