Table 1.
Characteristics of the 221 study subjects
Characteristic | N (Total=221) |
Percent |
---|---|---|
Age (in years) at IBEMC enrollment | ||
< 1 | 100 | 45% |
1–2 | 55 | 25% |
3–5 | 39 | 18% |
6–10 | 24 | 11% |
Missing | 3 | 1.4% |
Race | ||
American Indian or Alaska Native | 0 | 0% |
Asian | 1 | 0.5% |
Black or African American | 6 | 2.7% |
Native Hawaiian or Other Pacific Islander | 0 | 0% |
White | 189 | 86% |
Two or More Races | 3 | 1.4% |
Not Reported or Unknown | 22 | 10% |
Ethnicity | ||
Hispanic or Latino | 14 | 6% |
Not Hispanic or Latino | 191 | 86% |
Not Reported or Unknown | 16 | 7% |
Gender | ||
Male | 117 | 53% |
Female | 104 | 47% |
Biochemical diagnostic testing for MCADD | ||
Any testing | ||
Done | 202 | 91% |
Not done | 2 | 1% |
Plasma acylcarnitine profile | ||
Done | 166 | 75% |
Abnormal | 161 | 97% |
Within normal limits | 4 | 2% |
Urine organic acids | ||
Done | 109 | 49% |
Abnormal | 82 | 75% |
Within normal limits | 20 | 18% |
Urine acylglycine profile | ||
Done | 16 | 7% |
Abnormal | 15 | 94% |
Within normal limits | 1 | 6% |
Enzyme assay | ||
Done | 0 | 0% |
Fatty acid oxidation probe assay | ||
Done | 5 | 2% |
Abnormal | 5 | 100% |
Genetic (DNA) testing for MCADD | ||
Done | 186 | 84% |
Not done | 21 | 10% |