The introduction of new technologies such as tandem mass spectrometry (MS/MS) has lead to a major revolution in newborn screening for metabolic diseases: from “a test for a disease” (i.e. Guthrie test) to “a test for many diseases”. On a single drop of blood it is now possible to analyze and quantify various metabolites, not only acylcarnitines and amino acids, but also adenosine and 2’-deoxyadenosine (for the detection of ADA-SCID) and lysosomal enzymes. Therefore a great potential can be seen in near future for the diagnosis of diseases for which there may be a specific and effective therapy.
Metabolic newborn screening: Between past and future / Donati, M.A; Padrini, L.; La Marca, G.; Pasquini, E.. - In: EARLY HUMAN DEVELOPMENT. - ISSN 0378-3782. - ELETTRONICO. - 89:(2013), pp. S10-S11. [10.1016/S0378-3782(13)70081-1]
Metabolic newborn screening: Between past and future
PADRINI, LETIZIA;LA MARCA, GIANCARLO;
2013
Abstract
The introduction of new technologies such as tandem mass spectrometry (MS/MS) has lead to a major revolution in newborn screening for metabolic diseases: from “a test for a disease” (i.e. Guthrie test) to “a test for many diseases”. On a single drop of blood it is now possible to analyze and quantify various metabolites, not only acylcarnitines and amino acids, but also adenosine and 2’-deoxyadenosine (for the detection of ADA-SCID) and lysosomal enzymes. Therefore a great potential can be seen in near future for the diagnosis of diseases for which there may be a specific and effective therapy.File | Dimensione | Formato | |
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