Table 2.
Clinical Phenotype of 5 Children With UCP2 Mutations
| Case | Ethnicity | Birth Weight | Age at Presentation | Diazoxide Responsiveness | Age Trialed Without Diazoxide | Current Age (y) | Current Treatment |
|---|---|---|---|---|---|---|---|
| 1 | African American | 4.7 kg (>97th percentile) | 6 mo | Yes | 9.5 y | 11 | Diazoxide |
| 2 | African American | 2.6 kg (<3rd percentile) | 2 d | Partial | 11 mo | 6.5 | Unknown |
| 3 | African American | 3.7 kg (65th percentile) | 7 wk | Yes | 6.5 y | 8 | Diazoxide |
| 4 | Western European | 4.0 kg (70th percentile) | 4 mo | Yes | N/A | 2.5 | Diazoxide |
| 5 | African American | 1.2 kg (31st percentile) | 3 d | Yes | N/A | 1 | Diazoxide |
Abbreviation: N/A, not available.