Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program

Metachromatic leukodystrophy (MLD) is a rare inherited disorder of lysosomal storage, caused by a deficiency in the arylsulfatase A (ARSA) enzyme, leading to toxic accumulation of sulfatides, which progressively impair motor and cognitive function. MLD is a candidate for inclusion in newborn screeni...

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Main Authors: Sabrina Malvagia, Alessandra Bettiol, Margherita Porcaro, Massimo Mura, Silvia Funghini, Daniela Ombrone, Giulia Forni, Emanuela Scolamiero, Filippo Coppi, Roberta Damiano, Cristina Cereda, Simonetta Simonetti, Annalisa Lonetti, Marta Daniotti, Anna Caciotti, Amelia Morrone, Valeria Calbi, Francesca Fumagalli, Alessandro Aiuti, Elena Procopio, Renzo Guerrini, Giancarlo la Marca
Format: Article
Language:English
Published: MDPI AG 2025-04-01
Series:International Journal of Neonatal Screening
Subjects:
arylsulfatase A
lysosomal storage disorder
metachromatic leukodystrophy
newborn screening
tandem mass spectrometry
Online Access:https://www.mdpi.com/2409-515X/11/2/30
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