Tandem mass spectrometry assays of palmitoyl protein thioesterase 1 and tripeptidyl peptidase activity in dried blood spots for the detection of neuronal ceroid lipofuscinoses in newborns.
Anal Chem
; 86(15): 7962-8, 2014 Aug 05.
Article
en En
| MEDLINE
| ID: mdl-25019629
ABSTRACT
We report new substrates for quantitative enzyme activity measurements of human palmitoyl protein thioesterase (PPT1) and tripeptidyl peptidase (TPP1) in dried blood spots from newborns using tandem mass spectrometry. Deficiencies in these enzyme activities due to inborn errors of metabolism cause neuronal ceroid lipofuscinoses. The assays use synthetic compounds that were designed to mimic the natural substrates. Incubation produces nanomole quantities of enzymatic products per a blood spot that are quantified by tandem mass spectrometry using synthetic internal standards and selected reaction monitoring. The assays utilize a minimum steps for sample workup and can be run in a duplex format for the detection of neuronal ceroid lipofuscinoses or potentially multiplexed with other mass spectrometry-based assays for newborn screening of lysosomal storage disorders.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Tioléster Hidrolasas
/
Espectrometría de Masas en Tándem
/
Enfermedades del Recién Nacido
/
Lipofuscinosis Ceroideas Neuronales
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
/
Newborn
Idioma:
En
Revista:
Anal Chem
Año:
2014
Tipo del documento:
Article
País de afiliación:
Estados Unidos