Table 5.

Mutation status of diagnosed cases identified by California newborn screening.

Diagnosis	Number of Cases	Mutation Status
Pompe—classic infantile onset	1	Pathogenic, homozygous
	1	Pathogenic & pathogenic
Pompe—suspected late onset	3	Pathogenic, homozygous
	7	Pathogenic & Pathogenic/likely pathogenic
	4	Pathogenic & VUS
	1	VUS, homozygous
	1	VUS & VUS