Table 1.
Outcome of follow-up in infants screen positive for Pompe disease (n = 395).
| Category | Number of Infants Identified |
|---|---|
| Infantile Pompe disease | 3 |
| Late onset Pompe disease | 26 |
| Normal enzyme activity | 234 |
| Carrier 1 | 62 |
| Pseudodeficiency 2 | 39 |
| Phenotype undetermined 3 | 8 |
| Loss to follow-up or refused | 7 |
| Died prior to follow-up 4 | 1 |
| Pending | 15 |
1 Infants with one pathogenic variant, or one VUS, with or without pseudodeficiency alleles were classified as carriers. 2 Infants in this category had only pseudodeficiency allelesc.1726G>A, c.2065G>A, and/or c.271G>A. 38 of 39 infants in this group were of Asian descent. 3 Infants in this category had one pathogenic variant and one or two VUS. 4 This was a premature infant who had multiple complications of prematurity but no findings to suggest Pompe disease.