Demographic characteristics of patients with GA-1 and healthy controls
| Variable | GA-1 (n = 17) | HCs (n = 17) | ||
|---|---|---|---|---|
| Mean | Range | Mean | Range | |
| Age (mo) | 38 (SD, 17) | 11–84 | 38 (SD, 17) | 11–84 |
| Sex (M/F) | 6/11 | – | 6/11 | – |
| BAD scores | 14 (SD, 5) | 4–22 | 0 | 0 |
| Morbidity scores | 2 (SD, 0.5) | 1–3 | 0 | 0 |
| Urinary glutaric acid (μmol/mol)a | 617 (SD, 725) | 16.2–2937.62 | – | – |
| Blood C5DC (μmol/mol) | 4 (SD, 8) | 0.19–38.07 | – | – |
Note:—C5DC indicates glutarylcarnitine; BAD, barry-albright dystonia; en dash, not applicable.
↵a Classified as high (urinary glutaric acid >100 mmol/mol) or low (<100 mmol/mol).