Newborn Screening of 6 Lysosomal Storage Disorders by Tandem Mass Spectrometry.
Clin Pediatr (Phila)
; 63(10): 1364-1370, 2024 Oct.
Article
em En
| MEDLINE
| ID: mdl-38135922
ABSTRACT
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), ß-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.
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Base de dados:
MEDLINE
Assunto principal:
Triagem Neonatal
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Doenças por Armazenamento dos Lisossomos
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Alfa-Glucosidases
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Espectrometria de Massas em Tandem
Limite:
Female
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Humans
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Male
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Newborn
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article