Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots
J. inborn errors metab. screen
;
5: e160048, 2017. tab, graf
Article
in English
|
LILACS-Express
| LILACS
| ID: biblio-1090934
ABSTRACT
Abstract Background:
Interest in screening methods for lysosomal storage diseases (LSDs) has increased in recent years, since early diagnosis and treatment are essential to prevent or attenuate the onset of symptoms and the complications of these diseases. In the current work, we evaluated the performance of tandem mass spectrometry (MS/MS) for the detection of some LSDs, aiming the future use of this methodology for the screening of these disorders.Methods:
Standard curves and quality control dried blood spots were assayed to evaluate the precision, linearity, and accuracy. A total of 150 controls were grouped according to age and subjected to measurement of lysosomal enzymes deficient in Niemann-Pick A/B, Krabbe, Gaucher, Fabry, Pompe, and Mucopolysaccharidosis type I diseases. Samples from 59 affected patients with a diagnosis of LSDs previously confirmed by fluorimetric methods were analyzed.Results:
Data from standard calibration demonstrated good linearity and accuracy and the intra- and interassay precisions varied from 1.17% to 11.60% and 5.39% to 31.24%, respectively. Except for galactocerebrosidase and ?-l-iduronidase, enzyme activities were significantly higher in newborns compared to children and adult controls. Affected patients presented enzymatic activities significantly lower compared to all control participants.Conclusion:
Our results show that MS/MS is a promising methodology, suitable for the screening of LSDs, but accurate diagnoses will depend on its correlation with other biochemical and/or molecular analyses.
Full text:
Available
Index:
LILACS (Americas)
Type of study:
Diagnostic study
/
Screening study
Language:
English
Journal:
J. inborn errors metab. screen
Journal subject:
Medicina Cl¡nica
/
Patologia
Year:
2017
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
HCPA/BR
/
UFRGS/BR
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