Screening patients referred to a metabolic clinic for lysosomal storage disorders.
J Med Genet
; 48(6): 422-5, 2011 Jun.
Article
em En
| MEDLINE
| ID: mdl-21415080
ABSTRACT
BACKGROUND:
Lysosomal protein profiling is being developed as a high throughput method to screen populations for lysosomal storage disorders (LSD).DESIGN:
1415 blood spots from patients referred to a metabolic clinic for LSD were screened using a single multiplex assay for 14 proteins in a dried blood spot.RESULTS:
All patients with Pompe disease, metachromatic leukodystrophy, and mucopolysaccharidosis (MPS) type I, IIIA, IIIB and VI were identified by reduced lysosomal protein. Five samples were identified as possible pseudo-arylsulfatase A deficiency; four were confirmed. One multiple sulfatase deficiency patient was identified with multiple reduced sulfatase proteins. There were 10 MPS II patients identified with reduced iduronate 2-sulfatase, and one MPS II patient with iduronate 2-sulfatase in the unaffected range. For Fabry disease, 10 male patients were identified with reduced α-galactosidase and 2/6 female Fabry heterozygotes returned α-galactosidase concentrations in the male Fabry range. All 10 mucolipidosis II/III patients were identified with multiple raised proteins. For 79 blood spots with chitotriosidase >3.4mg/l, a follow-up one-plex chitotriosidase assay enabled identification of all nine Gaucher patients.CONCLUSION:
This study demonstrates the sensitivity and specificity of this technology to accurately identify 99% of LSD patients, with the exception of one MPS II false negative.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas
/
Doenças por Armazenamento dos Lisossomos
/
Alfa-Galactosidase
/
Hexosaminidases
/
Iduronato Sulfatase
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Limite:
Child
/
Female
/
Humans
/
Male
/
Newborn
País/Região como assunto:
Oceania
Idioma:
En
Revista:
J Med Genet
Ano de publicação:
2011
Tipo de documento:
Article