Tamiz de los errores innatos del metabolismo por espectrometría de masas en tándem: principales biomarcadores / Tandem mass spectrometry as screening for inborn errors of metabolism
Rev. méd. Chile
;
139(10): 1356-1364, oct. 2011. tab
Article
in Spanish
| LILACS
| ID: lil-612206
ABSTRACT
The use of tandem mass spectrometry for the diagnosis of inborn errors of metabolism has the potential to expand the newborn screening panel to include a vast number of diseases. This technology allows the detection, in the same spot of dried blood on filter paper and during one single analytical run, of different metabolic diseases. Tandem mass spectrometry is rapidly replacing the classical screening techniques approach of one-metabolite detected per analysis per disease by its ability of simultaneous quantification of several metabolites as markers of many diseases, such as acylcarnitines and amino acids. It is clear that a single metabolite can be a biomarker for several diseases, so the multiplex approach of using tandem mass spectrometry enhances, on average, the sensitivity and specificity of the screening. However, there are differences for particular metabolites and the diseases they detect within the same method. Disorders such as the tyrosinemias and among the organic acidemias, the methylmalonic acidemias, have a substantially higher false-positive rate than other more common metabolic diseases such as medium-chain acyl-CoA dehydrogenase deficiency and phenylketonuria. Before introducing this technology into routine newborn screening programs it is necessary to consider the frequency of each disease, as well as the response to early treatment or variables related to the collection of the sample.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Neonatal Screening
/
Tandem Mass Spectrometry
/
Metabolism, Inborn Errors
Type of study:
Diagnostic study
/
Screening study
Limits:
Humans
/
Infant, Newborn
Language:
Spanish
Journal:
Rev. méd. Chile
Journal subject:
Medicine
Year:
2011
Type:
Article
Affiliation country:
Cuba
Institution/Affiliation country:
Centro Nacional de Genética Médica/CU
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