Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide.
Mol Genet Metab
; 142(1): 108436, 2024 May.
Article
en En
| MEDLINE
| ID: mdl-38552449
ABSTRACT
Newborn screening (NBS) for metachromatic leukodystrophy (MLD) is based on first-tier measurement of sulfatides in dried blood spots (DBS) followed by second-tier measurement of arylsulfatase A in the same DBS. This approach is very precise with 0-1 false positives per â¼30,000 newborns tested. Recent data reported here shows that the sulfatide molecular species with an α-hydroxyl, 16carbon, mono-unsaturated fatty acyl group (161-OH-sulfatide) is superior to the original biomarker 160-sulfatide in reducing the number of first-tier false positives. This result is consistent across 4 MLD NBS centers. By measuring 161-OH-sulfatide alone or together with 160-sulfatide, the estimated false positive rate is 0.048% and is reduced essentially to zero with second-tier arylsulfatase A activity assay. The false negative rate is predicted to be extremely low based on the demonstration that 40 out of 40 newborn DBS from clinically-confirmed MLD patients are detected with these methods. The work shows that NBS for MLD is extremely precise and ready for deployment. Furthermore, it can be multiplexed with several other inborn errors of metabolism already tested in NBS centers worldwide.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Sulfoglicoesfingolípidos
/
Cerebrósido Sulfatasa
/
Tamizaje Neonatal
/
Pruebas con Sangre Seca
/
Leucodistrofia Metacromática
Límite:
Humans
/
Newborn
Idioma:
En
Revista:
Mol Genet Metab
Asunto de la revista:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Año:
2024
Tipo del documento:
Article