Advances in Newborn Screening for Lysosomal Disorders: From Laboratory Screening to Diagnosis

Dear Colleagues,

Due to the rapid proliferation of disease-modifying therapies for lysosomal disorders, there is increasing interest in newborn screening for these relatively common genetic disorders. It is clear that treatment is most effective when initiated early in the course of these progressive diseases; however, for most of these diseases, lengthy diagnostic delays are commonly seen. For some, such as infantile Krabbe disease and late-infantile metachromatic leukodystrophy, treatment is only effective during the presymptomatic period. In the United States, four lysosomal disorders (Pompe disease, mucopolysaccharidosis type I and II, and Krabbe disease) have been added to the Recommended Uniform Screening Panel (RUSP), and newborn screening is now widespread for these disorders. In other parts of the world, and in some states in the US, pilot or universal screening is ongoing for MPS IVA, VI and VII, Fabry disease, Gaucher disease, and metachromatic leukodystrophy. For many of these disorders, issues such as the frequent diagnosis of late-onset forms, the complexity of phenotype prediction, and pseudodeficiency must be addressed. The education of laboratory personnel, health care providers, and families is critically important in mitigating the potential negative psychological impacts of newborn screening, avoiding overtreatment, and insuring optimal outcomes for screened infants.

The Special Issue of International Journal of Neonatal Screening, “Advances in Newborn Screening for Lysosomal Disorders: From Laboratory Screening to Diagnosis”, will focus on laboratory methodology, approaches to the diagnostic confirmation of the various disorders, the prediction of phenotypes and prognosis, newborn screening experiences across the globe, and the short- and long-term follow-up of newborns identified with various lysosomal disorders. The time is right for this Special Issue, and we thank all contributing authors in advance.

Prof. Dr. Barbara K. Burton
Dr. Joseph Orsini
Guest Editors

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• krabbe disease
• metachromatic leukodystrophy
• pompe disease
• mucopolysaccharidosis type I and II
• MPS IVA, VI and VII
• fabry disease
• gaucher disease
• lysosomal disorders
• newborn screening