Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.

@article{Tajima2016ScreeningOM,
  title={Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.},
  author={Go Tajima and Keiichi Hara and Miyuki Tsumura and Reiko Kagawa and Satoshi Okada and Nobuo Sakura and Ikue Hata and Yosuke Shigematsu and Masao Kobayashi},
  journal={Molecular genetics and metabolism},
  year={2016},
  volume={119 4},
  pages={
          322-328
        }
}
BACKGROUND Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a representative disorder of fatty acid oxidation and is one of the most prevalent inborn errors of metabolism among Caucasian populations. In Japan, however, it was as late as 2000 when the first patient was found, and enzymatic and genetic evaluation of MCAD deficiency began. METHODS We measured octanoyl-CoA dehydrogenase activity in lymphocytes of symptomatic children and newborn screening (NBS)-positive subjects who… CONTINUE READING
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