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Demographic characteristics of patients with GA-1 and healthy controls
VariableGA-1 (n = 17)HCs (n = 17)
MeanRangeMeanRange
Age (mo)38 (SD, 17)11–8438 (SD, 17)11–84
Sex (M/F)6/11–6/11–
BAD scores14 (SD, 5)4–2200
Morbidity scores2 (SD, 0.5)1–300
Urinary glutaric acid (μmol/mol)a617 (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).