Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan.

[fabry disease]

Interest in lysosomal storage diseases in newborn screening programs has increased in recent years . Two techniques , fluorescence (4 -MU ) and tandem mass spectrometry (MS /MS ) methods are frequently used . We report a pilot study of large scale newborn screening for Fabry , Pompe , Gaucher , and MPS I diseases by using the MS /MS method in Taiwan and compared the performance of the MS /MS with 4 -MU methods .More than 100 ,000 dried blood spots (DBSs ) were collected consecutively as part of the national Taiwan newborn screening programs . The enzyme activities were detected by the MS /MS method from a DBS punch . Mutation analysis was further performed for newborns with detected enzyme deficiency .The DNA sequence analysis for suspected cases revealed 64 newborns with confirmed Fabry mutations , 16 were classified as infantile or late-onset Pompe disease , and 1 was characterized as Gaucher disease . The positive predict value increased from 4 .0 % to 7 .1 % in the Pompe study , and from 61 .0 % to 95 .5 % in the Fabry study by the MS /MS method compared to 4 -MU assay .The MS /MS method has been validated as a more specific , powerful and efficient tool than the 4 -MU assay . It also provided a multiplex solution of newborn screening for lysosomal storage diseases .

Diseases
Validation

Diseases presenting "blood spots" symptom

22q11.2 deletion syndrome

classical phenylketonuria

congenital toxoplasmosis

fabry disease

gm1 gangliosidosis

homocystinuria without methylmalonic aciduria

krabbe disease

omenn syndrome

phenylketonuria

severe combined immunodeficiency

x-linked adrenoleukodystrophy

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