Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I.
Curr Protoc Hum Genet
; 84: 17.17.1-17.17.8, 2015 Jan 20.
Article
en En
| MEDLINE
| ID: mdl-25599668
ABSTRACT
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder due to deficiency of alpha iduronidase (IDUA). Progressive storage of dermatan and heparan sulfate throughout the body lead to a multiorgan presentation including short stature, dysostosis multiplex, corneal clouding, hearing loss, coarse facies, hepatosplenomegaly, and intellectual disability. Diagnosis of MPS I is based on IDUA enzyme analysis in leukocytes or dried blood spots (DBS) followed by molecular confirmation of the IDUA gene mutations in individuals with low enzyme activity. The advent of mass spectrometry methods for enzyme analysis in DBS has enabled high-throughput screening for MPS I in symptomatic individuals and newborn infants. The following unit provides the detailed analytical protocol for measurement of IDUA activity in DBS using tandem mass spectrometry.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Leucocitos Mononucleares
/
Mucopolisacaridosis I
/
Pruebas con Sangre Seca
/
Iduronidasa
Tipo de estudio:
Diagnostic_studies
/
Guideline
Límite:
Humans
/
Infant
/
Newborn
Idioma:
En
Revista:
Curr Protoc Hum Genet
Año:
2015
Tipo del documento:
Article