Newborn Screening of 6 Lysosomal Storage Disorders by Tandem Mass Spectrometry.

Chen, Yao; Yang, Yan; Zeng, Yinglin; Lin, Qingying; Zhao, Peiran; Mao, Bin; Qiu, Xiaolong; Huang, Ting; Xu, Liangpu; Zhu, Wenbin

This study was designed to screen 6 lysosomal storage diseases (LSDs) in neonates using tandem mass spectrometry (MS/MS), and establish cutoff values for these LSDs with 3000 dried blood spots (DBS) samples. Cutoff values for α-L-iduronidase (IDUA), α-galactosidase (GLA), acid beta glucosidase (ABG), β-galactocerebrosidase (GALC), acid sphingomyelinase (ASM), and acid alpha glucosidase (GAA) were as follows: GLA, > 2.06 μmol/L·h; ABG, > 1.78 μmol/L·h; ASM, > 0.99 μmol/L·h; IDUA, > 1.33 μmol/L·h; GALC, > 0.84 μmol/L·h; and GAA, > 2.06 μmol/L·h. There were 30 positives in initial MS/MS screening test, and 15 samples were still positive with repeat testing. Their parents/guardians were recontacted and DBS samples were collected again for test. Only 1 child showed abnormal GAA enzyme activity after recontacting process, and was diagnosed with Pompe disease after genetic screening. Eventually, cutoff values of 6 specific enzyme activities were established and MS/MS is effective for early LSDs screening.

NEWBORN screening; REFERENCE values; LYSOSOMES; BLOOD chemical analysis; RESEARCH funding; BLOOD collection; ENZYMES; ESTERASES; MASS spectrometry; LYSOSOMAL storage diseases; GENETIC testing; GLYCOSIDASES

Clinical Pediatrics, 2024, Vol 63, Issue 10, p1364

0009-9228

Academic Journal

10.1177/00099228231219336