Table 3. Description of clinical outcomes for homozygous p.V283A patients.
| ID | NBS C14:1 (μmol/L)¶ | NBS normal range | Presenting feature | Age at last consult (years) | Neonatal symptoms | Echocardiogram result (age at test date) | Treatment § | Enzyme testing (normal range)¥ |
|---|---|---|---|---|---|---|---|---|
| PAT0472 | 1.53 | <0.6 | NBS | 1.5 | hypoglycemia and hyperbilirubinemia | normal (21d and 322d) | M, D | deficient |
| PAT0306 | 1.03 | <0.65 | NBS | 1 | prematurity, respiratory distress, hyperbilirubinemia | normal | M, D | 0.8 (3.9-9.6) |
| PAT0044 | abnormal | NBS | 3 | none | normal (26d) | M, D | deficient | |
| PAT0692 | 1.27 | <0.18 | NBS | 0.15 | none | normal | M, C | - |
| PAT0613 | 0.74 | <0.52 | NBS | 1 | hypoglycemia | normal | M, C | - |
| PAT0135 | 2.89 | <0.79 | NBS | 5.5 | none | normal (8d) small ASD (31d) | M, C, D | - |
| PAT0131 | 1.18 | <0.79 | NBS | 4.5 | none | and normal (1, 2, 3, 4y) | M, C, D | - |
¶
Qualitative NBS values were not available for all patients. Results are from NBS bloodspot cards collected in first 3 days of life.
§
M = supplementation with MCT oil of MCT containing formula, D = dietary fat restriction, C = supplemental carnitine
¥
values are in nmol/min/mg protein (completed on peripheral leukocytes). “Deficient” is used for a qualitative enzyme testing results indicating affected status (completed on fibroblasts).