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Genetic and Newborn Screening Advisory Council Task Force

Contact the Newborn Screening Program

Purpose of the Task Force 

The Genetic and Newborn Screening Advisory Council has established a task force on Pompe Disease and Mucopolysaccharidosis Type 1 (MPS I). The purpose of this task force is to obtain information regarding the ability to distinguish between the various forms of these disorders through newborn screening and assess the Newborn Screening Program’s capacity and capability to screen for these disorders.

What is Pompe? 

Pompe disease is an autosomal recessive disorder that leads to a deficiency of the enzyme acid α-glucosidase (GAA), resulting in the accumulation of lysosomal glycogen. The condition has a broad phenotype, ranging from an infantile form (IOPD) associated with significant morbidity and death in early childhood to a late-onset form (LOPD), associated with progressive weakness and respiratory failure, with highly variable onset and progression.

What is MPS I, Mucopolysaccharidosis Type I? 

Mucopolysaccharidosis Type I (MPS I) is an autosomal recessive lysosomal storage disorder. Although there are overlapping phenotypes, MPS I can be generally classified into two forms, severe and attenuated, based on the age of onset and severity. Severe MPS I is the dominant form, and is associated with multi-system involvement, including progressive and rapid developmental delay.


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