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. Author manuscript; available in PMC: 2017 Sep 1.
Published in final edited form as: Mol Genet Metab. 2016 Jul 15;119(1-2):75–82. doi: 10.1016/j.ymgme.2016.07.002

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%