Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry
Clinics
; 68(11): 1469-1473, 1jan. 2013. tab, graf
Artigo
em Inglês
| LILACS
| ID: lil-690625
Biblioteca responsável:
BR1.1
ABSTRACT
OBJECTIVES:
High-throughput mass spectrometry methods have been developed to screen newborns for lysosomal storage disorders, allowing the implementation of newborn screening pilot studies in North America and Europe. It is currently feasible to diagnose Pompe, Fabry, Gaucher, Krabbe, and Niemann-Pick A/B diseases, as well as mucopolysaccharidosis I, by tandem mass spectrometry in dried blood spots, which offers considerable technical advantages compared with standard methodologies. We aimed to investigate whether the mass spectrometry methodology for lysosomal storage disease screening, originally developed for newborns, can also discriminate between affected patients and controls of various ages.METHODS:
A total of 205 control individuals were grouped according to age and subjected to mass spectrometry quantification of lysosomal α-glucosidase, β-glucocerebrosidase, α-galactosidase, acid sphingomyelinase, galactocerebrosidase, and α−L-iduronidase activities. Additionally, 13 affected patients were analyzed.RESULTS:
The median activities for each enzyme and each age group were determined. Enzyme activities were significantly lower in individuals aged older than 18 years compared with those in newborns. Affected patients presented enzymatic activities corresponding to less than 20% of the age-matched controls.CONCLUSIONS:
Our data indicate that the mass spectrometry methodology can be used for the screening of lysosomal storage diseases in non-newborn patients. However, for some diseases, such as Fabry and mucopolysaccharidosis I, a combination of biochemical and clinical data may be necessary to achieve accurate diagnoses. .
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Doenças por Armazenamento dos Lisossomos
/
Espectrometria de Massas em Tandem
Tipo de estudo:
Estudo diagnóstico
/
Estudo observacional
Limite:
Adolescente
/
Adulto
/
Idoso
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
/
Recém-Nascido
País/Região como assunto:
América do Sul
/
Brasil
Idioma:
Inglês
Revista:
Clinics
Assunto da revista:
Medicina
Ano de publicação:
2013
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Rede Sarah de Hospitais de Reabilitacao/BR