Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects

@article{ElHattab2010MaternalSP,
  title={Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects},
  author={Ayman W El-Hattab and Fang-yuan Li and Joseph J Shen and Berkley R. Powell and Erawati V. Bawle and Darius J Adams and Erica Wahl and Joyce A. Kobori and Brett Graham and Fernando Scaglia and L. J. C. Wong},
  journal={Genetics in Medicine},
  year={2010},
  volume={12},
  pages={19-24}
}
Background: Systemic primary carnitine deficiency is an autosomal recessive disorder of the carnitine cycle caused by mutations in the SLC22A5 gene that encodes the carnitine transporter, organic cation transporter. Systemic primary carnitine deficiency typically presents in childhood with either metabolic decompensation or cardiomyopathy. We report five families in which low free carnitine levels in the infants' newborn screening have led to the diagnosis of maternal systemic primary carnitine… CONTINUE READING
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