Cut-off values of neonatal lysosomal storage disease-related enzymes detected by tandem mass spectrometry.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 51(3): 321-325, 2022 Jun 25.
Article
en En
| MEDLINE
| ID: mdl-35462462
ABSTRACT
OBJECTIVE:
To establish cut-off values of lysosomal storage disease (LSD)-related enzymes by tandem mass spectrometry.METHODS:
A total of 26 689 newborns and 7 clinically confirmed LSD children underwent screening for LSDs (glycogen storage disease typeâ ¡, Fabry disease, mucopolysaccharidosis type â , 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 ß-glucocerebrosidase, acid sphingomyelinase, ß-galactocerebroside, α- L-iduronidase and acid α-glucosidase, and the 30% of the median enzyme activity of α-galactosidase were taken as cut-off values of corresponding enzymes. The genetic diagnosis was performed in neonates whose enzyme activity was lower than 70% of the cut-off value.RESULTS:
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 ß-galactocerebroside deficiency, 1 case of α- L-iduronidase deficiency, 19 cases of α-galactosidase deficiency, and 97 cases of acid α-glucosidase deficiency. Eight infants were genetically diagnosed with LSDs, including 3 cases of glycogen storage disease type â ¡, 3 cases of Krabbe disease, and 2 cases of Fabry disease, with a positive predictive value of about 5.6%. Cut-off values ââof the 6 LSD enzyme activities all showed a downward trend from March to August, and an upward trend from September to December. There was a statistically significant difference in LSD enzyme activity among different months ( P<0.05).CONCLUSION:
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedad del Almacenamiento de Glucógeno Tipo II
/
Enfermedades por Almacenamiento Lisosomal
/
Enfermedad de Fabry
/
Leucodistrofia de Células Globoides
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Child
/
Humans
/
Infant
/
Newborn
Idioma:
En
Revista:
Zhejiang Da Xue Xue Bao Yi Xue Ban
Asunto de la revista:
MEDICINA
Año:
2022
Tipo del documento:
Article