galactocerebroside and Fabry-Disease

To establish cut-off values of lysosomal storage disease (LSD)-related enzymes by tandem mass spectrometry.. A total of 26 689 newborns and 7 clinically confirmed LSD children underwent screening for LSDs (glycogen storage disease typeⅡ, Fabry disease, mucopolysaccharidosis type Ⅰ, Krabbe disease, Niemann-Pick disease A/B and Gaucher disease). The activities of LSD-related enzymes were detected by tandem mass spectrometry. The 20% of the median enzyme activity of each batch of acid β-glucocerebrosidase, acid sphingomyelinase, β-galactocerebroside, α-. The enzyme activities of 7 clinically confirmed cases were all lower than the cut-off values. Among 26 689 newborns, 142 cases (0.53%) were suspected positive for LSDs, including 25 cases of β-galactocerebroside deficiency, 1 case of α-. The established cut-off values of LSD-related enzyme activities detected by tandem mass spectrometry can be used for screening LSDs in neonates, and the enzyme activity would be affected by temperature and humidity.

Topics: alpha-Galactosidase; alpha-Glucosidases; Child; Fabry Disease; Galactosylceramides; Glucosylceramidase; Glycogen Storage Disease Type II; Humans; Iduronidase; Infant; Infant, Newborn; Leukodystrophy, Globoid Cell; Lysosomal Storage Diseases; Neonatal Screening; Sphingomyelin Phosphodiesterase; Tandem Mass Spectrometry